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Article ; Online: Genetic variants in Colombian patients with inherited cardiac conditions.

Rucinski, Cynthia / Yunis, Luz Karime / Rosas, Fernando / Santacruz, David / Camargo, Juan Manuel / Yunis, Juan José

2022 Volume 10, Issue 11, Page(s) e2046

Abstract: Background: Clinical and molecular diagnosis of inherited cardiac conditions is key to find at-risk subjects and avoid preventable deaths. This study aimed to identify genetic variants in a sample of Colombian patients diagnosed with inherited cardiac ... ...

Abstract	Background: Clinical and molecular diagnosis of inherited cardiac conditions is key to find at-risk subjects and avoid preventable deaths. This study aimed to identify genetic variants in a sample of Colombian patients diagnosed with inherited cardiac conditions. Methods: Next-generation sequencing (Illumina platform) using a 231 gene panel was performed in blood samples of 25 unrelated patients with age disease onset between 9 and 55 years. Results: Genetic testing yield was 52%. Two novel likely pathogenic/ pathogenic variants were found: a DSP nonsense variant in a patient with arrhythmogenic cardiomyopathy and a KCNE1 frameshift variant in two patients with long QT syndrome. Younger individuals (<18 years) had the highest genetic testing yield (66.6%) compared to 50% and 20% in young adults and patients over 40 years, respectively. All subjects affected with long QT syndrome with a severe event while exercising had a positive genetic test. They also had four times more loss of consciousness events and, resuscitated sudden cardiac arrest was more representative. Conclusion: This study is the first one undertaken in Colombia to evaluate inherited cardiac conditions. It highlights the need to perform mutational analysis to provide adequate genetic counseling and to be able to identify patients at risk of severe events.
MeSH term(s)	Young Adult ; Humans ; Child ; Adolescent ; Adult ; Middle Aged ; Death, Sudden, Cardiac ; Colombia ; Long QT Syndrome/genetics ; Long QT Syndrome/diagnosis ; Genetic Testing ; Genetic Counseling
Language	English
Publishing date	2022-10-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.2046
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Article ; Online: Susceptibility to thiopurine toxicity by

Correa-Jimenez, Oscar / Yunis, Juan José / Linares-Ballesteros, Adriana / Sarmiento-Urbina, Isabel

Colombia medica (Cali, Colombia)

2021 Volume 52, Issue 3, Page(s) e2074569

Abstract: Objective: This study aimed to correlate the genetic profile of the : Methods: This was an analytical, longitudinal, observational study in which the genotypes of the genes of interest were determined by PCR allelic discrimination with TaqMan® probes ...

Abstract	Objective: This study aimed to correlate the genetic profile of the Methods: This was an analytical, longitudinal, observational study in which the genotypes of the genes of interest were determined by PCR allelic discrimination with TaqMan® probes in patients receiving chemotherapy during the maintenance phase in the Pediatric Hematology and Oncology Unit in 2017. Sociodemographic and clinical data corresponding to the first six months of their maintenance chemotherapy were collected, and the correlation between the genotypes obtained and the development of side effects during the maintenance phase of chemotherapy in these patients was evaluated. Results: Seventy pediatric patients were included in the study. Genetic analyses were carried out of these for Conclusion: Studies with a larger population size are needed and the evaluation of other genetic variants that may influence the development of side effects during maintenance chemotherapy.
MeSH term(s)	Antimetabolites, Antineoplastic/adverse effects ; Child ; Colombia ; Drug-Related Side Effects and Adverse Reactions ; Humans ; Mercaptopurine/adverse effects ; Methyltransferases/genetics ; Methyltransferases/therapeutic use ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/chemically induced ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Pyrophosphatases/genetics ; Pyrophosphatases/therapeutic use
Chemical Substances	Antimetabolites, Antineoplastic ; Mercaptopurine (E7WED276I5) ; Methyltransferases (EC 2.1.1.-) ; thiopurine methyltransferase (EC 2.1.1.67) ; NUDT15 protein, human (EC 2.6.1.-) ; Pyrophosphatases (EC 3.6.1.-)
Language	English
Publishing date	2021-09-30
Publishing country	Colombia
Document type	Journal Article ; Observational Study
ZDB-ID	2059694-7
ISSN	1657-9534 ; 0120-8322
ISSN (online)	1657-9534
ISSN	0120-8322
DOI	10.25100/cm.v52i3.4569
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Article ; Online: Síndrome cerebro-pulmón-tiroides en un recién nacido con deleción 14q12-q21.1.

Villamil-Osorio, Milena / Yunis, Luz Karime / Quintero, Ligia / Restrepo-Gualteros, Sonia / Yunis, Juan José / Jaramillo, Lina / Agudelo, Bertha Inés / Ladino, Yaqueline

Andes pediatrica : revista Chilena de pediatria

2021 Volume 92, Issue 6, Page(s) 930–936

Abstract: Introduction: In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by ... ...

Title translation	Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1.
Abstract	Introduction: In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene. Objective: To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1. Clinical case: Newborn patient with respiratory distress since birth, chILD syndrome, and hypothyroidism, in which brain-lung-thyroid syndrome was suspected. He also presented seizures, minor and ma jor abnormalities on physical examination. Microarray analysis revealed a 14.7 Mb deletion in the chromosome 14q12-q21.1, which includes the NKX2-1 gene. Conclusion: The brain-lung-thyroid syndrome should be considered in newborns with respiratory distress syndrome and diffuse lung disease (chILD syndrome), especially if they present hypotonia, choreoathetosis, or hypothyroidism. Diagnosis confirmation requires genetic analysis, even more, when there are other abnormalities not explained by the suspected syndrome.
MeSH term(s)	Abnormalities, Multiple ; Athetosis ; Child ; Chorea ; Congenital Hypothyroidism/diagnosis ; Congenital Hypothyroidism/genetics ; Genetic Diseases, X-Linked ; Humans ; Ichthyosiform Erythroderma, Congenital ; Infant, Newborn ; Limb Deformities, Congenital ; Lung Diseases, Interstitial/genetics ; Male ; Respiratory Distress Syndrome, Newborn ; Thyroid Nuclear Factor 1/genetics
Chemical Substances	Thyroid Nuclear Factor 1
Language	Spanish
Publishing date	2021-11-05
Publishing country	Chile
Document type	Journal Article
ISSN	2452-6053
ISSN (online)	2452-6053
DOI	10.32641/andespediatr.v92i6.3287
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Article: Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia.

Serrano, Martha Lucía / Yunis, Juan José

Biomedica : revista del Instituto Nacional de Salud

2013 Volume 33, Issue 1, Page(s) 53–61

Abstract: Introduction: Retinoblastoma is a childhood cancer of the retina originated by altered or null retinoblastoma protein (pRb) expression. Genetic alterations in both RB1 alleles in the retinal cells are required for the development of retinoblastoma. In ... ...

Abstract	Introduction: Retinoblastoma is a childhood cancer of the retina originated by altered or null retinoblastoma protein (pRb) expression. Genetic alterations in both RB1 alleles in the retinal cells are required for the development of retinoblastoma. In the sporadic form, non-hereditary RB1 gene mutations take place in a single retinoblast cell, and are therefore only present in tumor DNA (somatic mutations). Sporadic retinoblastoma is primarily unilateral, lacks family history and has no risk of transmission to descendants. Genetic tests for detection of RB1 mutation has improved the identification of carriers and facilitated accurate genetic counseling. Objective: To identify mutations in the RB1 gene in Colombian patients with sporadic retinoblastoma by PCR-SSCP followed by sequence. Materials and methods: Four patients with sporadic retinoblastoma were analyzed by PCR-SSCP, followed by DNA sequencing to identify variations in the RB1 gene. Results: We identified five variations in RB1 gene: three new mutations (one germline and two somatic mutations), one new polymorphism and one already reported somatic mutation. Four mutations were found in three patients with unilateral retinoblastoma and one mutation was found in a patient with bilateral retinoblastoma. One of these was a germline mutation in a sporadic unilateral retinoblastoma that was not present in the parents or three siblings analyzed. Conclusions: Our results emphasize the importance of identifying mutations for genetic counseling and clinical management of sporadic retinoblastoma patients. Description of a new RB1 gene variant is interesting since there have been a small number of polymorphisms reported for this gene.
MeSH term(s)	Child, Preschool ; DNA Mutational Analysis ; DNA, Neoplasm/analysis ; DNA, Neoplasm/blood ; DNA, Neoplasm/genetics ; Eye Neoplasms/blood ; Eye Neoplasms/genetics ; Female ; Frameshift Mutation ; Genes, Retinoblastoma ; Germ-Line Mutation ; Humans ; Infant ; Male ; Mutation ; Neoplasms, Multiple Primary/blood ; Neoplasms, Multiple Primary/genetics ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Retinoblastoma/blood ; Retinoblastoma/genetics ; Sequence Analysis, DNA
Chemical Substances	DNA, Neoplasm
Language	English
Publishing date	2013-01
Publishing country	Colombia
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	0120-4157
ISSN	0120-4157
DOI	10.1590/S0120-41572013000100007
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Article ; Online: Philadelphia-like acute lymphoblastic leukemia: Characterization in a pediatric cohort in a referral center in Colombia.

Linares Ballesteros, Adriana / Yunis, Luz Karime / García, Johnny / Aponte, Nelson / Flechas, Jessica / Martinez, Cindy / Uribe, Gloria / Quintero, Edna / Díaz, Angela / Pardo, Carlos / Sarmiento, Isabel Cristina / Contreras, Agustin / Yunis, Juan Jose

Cancer reports (Hoboken, N.J.)

2021 Volume 5, Issue 5, Page(s) e1587

Abstract: Background: Philadelphia-like (Ph-like) acute lymphoblastic leukemia (ALL) is a subtype of pediatric leukemia with high risk factors and poor outcome. There are few reports of its prevalence in Latin America.: Aim: This study evaluated the frequency ... ...

Abstract	Background: Philadelphia-like (Ph-like) acute lymphoblastic leukemia (ALL) is a subtype of pediatric leukemia with high risk factors and poor outcome. There are few reports of its prevalence in Latin America. Aim: This study evaluated the frequency and clinical and biological characteristics of Ph-like ALL in a pediatric cancer center in Colombia. Methods: The Ph-like genetic profile was analyzed by a low-density array (LDA). Samples from patients with Ph-like ALL were analyzed by fluorescent in situ hybridization for cytokine receptor like factor 2 (CRLF2) and ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1) rearrangements. Copy number variations were assessed by multiplex ligation probe amplification. Results: Data from 121 patients were analyzed. Fifteen patients (12.4%) had Ph-like ALL, and these patients had significantly higher leukocyte counts at diagnosis and higher levels of minimal residual disease on days 15 and 33 of induction than patients without the Ph-like subtype. There were no significant differences in sex, age, or response to prednisone at day 8 between the two groups. CRLF2 rearrangements were identified in eight patients, and ABL1 rearrangements were identified in two patients. Other genetic alterations alone or in combination were identified in 77% of patients, including deletions in cyclin dependent kinase inhibitor 2 A/B (46.2%), IKAROS family zinc finger 1 (38.3%), and paired box 5 (30.8%). Conclusions: Ph-like ALL had a 12.4% prevalence in our cohort of patients with pediatric ALL. The identification of this group of patients has importance for risk stratification and future targeted therapy.
MeSH term(s)	Child ; Colombia/epidemiology ; DNA Copy Number Variations ; Humans ; Ikaros Transcription Factor/genetics ; In Situ Hybridization, Fluorescence ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/epidemiology ; Referral and Consultation
Chemical Substances	Ikaros Transcription Factor (148971-36-2)
Language	English
Publishing date	2021-11-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2573-8348
ISSN (online)	2573-8348
DOI	10.1002/cnr2.1587
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Article ; Online: The impact of smoking on disease activity, disability, and radiographic damage in rheumatoid arthritis: is cigarette protective?

Quintana-Duque, Mario Andrés / Rondon-Herrera, Federico / Calvo-Paramo, Enrique / Yunis, Juan Jose / Varela-Nariño, Adriana / Iglesias-Gamarra, Antonio

Rheumatology international

2017 Volume 37, Issue 12, Page(s) 2065–2070

Abstract: The ojective of this study is to assess the effect of tobacco smoking on disease activity, functional ability, and joint damage in a cohort of patients with early onset rheumatoid arthritis (EORA). 129 EORA patients attending the Rheumatology Unit of the ...

Abstract	The ojective of this study is to assess the effect of tobacco smoking on disease activity, functional ability, and joint damage in a cohort of patients with early onset rheumatoid arthritis (EORA). 129 EORA patients attending the Rheumatology Unit of the School of Medicine of the "Universidad Nacional de Colombia" and the "Clínica de Artritis y Rehabilitación" in Bogota, Colombia, were enrolled in a prospective observational cohort study with 3-year follow-up. Clinical, biological, immunogenetics, and radiographic data were analyzed. Active disease was defined as DAS28 > 2.6. Smoking status was assessed by self-report as "never smokers" and "ever smokers". Patient groups with different smoking status were compared for RA measures. Status as "never smokers" and "ever smokers" was reported by 81.3 and 18.7%. Ever smokers had less risk of disability (HAQ-DI ≥ 0.5) at 36 month (Ever smokers vs. Never smokers OR for HAQ ≥ 0.5 0.25, 95% CI 0.06-0.97, p = 0.04). When former smokers were excluded in analysis, we found that current smoking was also associated with less disability and less risk of active disease. The percentage of erosive disease, radiographic progression, and SvdH score were similar in all smoking categories. In Colombian patients with EORA, smoking was associated with less disease activity and disability. Radiographic joint damage progressed at an equivalent rate in smokers and non-smokers. These data suggest a more benign, or at least not deleterious clinical course in smokers with RA.
MeSH term(s)	Adult ; Arthritis, Rheumatoid/diagnostic imaging ; Arthritis, Rheumatoid/physiopathology ; Case-Control Studies ; Colombia ; Disability Evaluation ; Disease Progression ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Patient Reported Outcome Measures ; Prospective Studies ; Radiography ; Rheumatoid Factor/blood ; Severity of Illness Index ; Smokers/statistics & numerical data ; Smoking/physiopathology ; Statistics, Nonparametric
Chemical Substances	Rheumatoid Factor (9009-79-4)
Language	English
Publishing date	2017-12
Publishing country	Germany
Document type	Journal Article ; Observational Study
ZDB-ID	8286-7
ISSN	1437-160X ; 0172-8172
ISSN (online)	1437-160X
ISSN	0172-8172
DOI	10.1007/s00296-017-3845-8
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Article ; Online: The Role of 25-Hydroxyvitamin D as a Predictor of Clinical and Radiological Outcomes in Early Onset Rheumatoid Arthritis.

Quintana-Duque, Mario Andrés / Caminos, Jorge Eduardo / Varela-Nariño, Adriana / Calvo-Paramo, Enrique / Yunis, Juan José / Iglesias-Gamarra, Antonio

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases

2017 Volume 23, Issue 1, Page(s) 33–39

Abstract: Objective: The aims of this study were to compare the levels of 25-hydroxyvitamin D (25(OH)D) in patients with early-onset rheumatoid arthritis (EORA) versus a healthy control group and to assess the association of 25(OH)D deficiency and the BsmI ... ...

Abstract	Objective: The aims of this study were to compare the levels of 25-hydroxyvitamin D (25(OH)D) in patients with early-onset rheumatoid arthritis (EORA) versus a healthy control group and to assess the association of 25(OH)D deficiency and the BsmI polymorphism of the vitamin D receptor gene with clinical, radiological, and laboratory parameters. Methods: Early-onset RA Colombian patients were enrolled in a 3-year follow-up study. Vitamin D deficiency was diagnosed for 25(OH)D levels of less than 20 ng/mL. Pearson and Spearman correlation coefficients were used to assess data. Results: Seventy patients and 70 matched healthy subjects were included. 25-Hydroxyvitamin D was lower in the EORA group (27.13 [SD, 13.4] ng/mL vs. 33.74 [SD, 16.7] ng/mL; P = 0.01); 31.4% of EORA patients were vitamin D deficient. Remission was higher in subjects without 25(OH)D deficiency (22.7% vs. 47.9%; P = 0.04). Patients with 25(OH)D deficiency at baseline had higher Health Assessment Questionnaire and Physician Global Disease Activity Assessment scores, fatigue levels, erythrocyte sedimentation rate, and morning stiffness after 3 years. At disease onset, only a relationship between 25(OH)D deficiency with fatigue and morning stiffness was found. Neither radiographic progression nor Sharp van der-Heidje score was associated to hypovitaminosis D after 36-month follow-up. The bb genotype was less frequent in patients with vitamin D deficiency (0% vs. 16.6%; P = 0.04). Patients with BB-Bb genotype had lower 25(OH)D and a propensity to more severe disease. Conclusions: Our data provide further support for a role of vitamin D as a clinical biomarker for RA. Baseline 25(OH)D could have potential as a predictor of disease severity in EORA.
MeSH term(s)	Adult ; Age of Onset ; Arthritis, Rheumatoid/blood ; Arthritis, Rheumatoid/diagnosis ; Arthritis, Rheumatoid/diagnostic imaging ; Arthritis, Rheumatoid/epidemiology ; Colombia/epidemiology ; Comorbidity ; Female ; Humans ; Male ; Middle Aged ; Predictive Value of Tests ; Radiography/methods ; Radiography/statistics & numerical data ; Reproducibility of Results ; Severity of Illness Index ; Vitamin D/analogs & derivatives ; Vitamin D/blood ; Vitamin D Deficiency/blood ; Vitamin D Deficiency/diagnosis ; Vitamin D Deficiency/drug therapy ; Vitamin D Deficiency/epidemiology
Chemical Substances	Vitamin D (1406-16-2) ; 25-hydroxyvitamin D (A288AR3C9H)
Language	English
Publishing date	2017-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	1283266-2
ISSN	1536-7355 ; 1076-1608
ISSN (online)	1536-7355
ISSN	1076-1608
DOI	10.1097/RHU.0000000000000477
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Zs.A 4815: Show issues

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Article ; Online: Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients.

Duque, Andrés Felipe / Lopez, Juan Carlos / Benitez, Bruno / Hernandez, Helena / Yunis, Juan José / Fernandez, William / Arboleda, Humberto / Arboleda, Gonzalo

Colombia medica (Cali, Colombia)

2015 Volume 46, Issue 3, Page(s) 117–121

Abstract: Introduction: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson´s disease, but the prevalence of these mutations varies among populations.: Objective! ...

Abstract	Introduction: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson´s disease, but the prevalence of these mutations varies among populations. Objective: to analyzed the frequency of the LRRK2 p.G2019S mutation (c.6055 G>A transition) in a sample of Colombian patients. Methods: In the present study we have analyzed the frequency of the LRRK2 p.G2019S mutation in 154 patients with familial or sporadic Parkinson Disease, including early and late onset patients, and 162 normal controls. Results: Our results show occurrence of this mutation in two cases (2/154, 1.3%) with classical Parkinson´s signs, and one completely asymptomatic control (1/162, 0.6%). Conclusion: The p.G2019S mutation is not an important causal factor of Parkinson Disease in Colombia having similar frequencies to those reported in other Latin American populations.
MeSH term(s)	Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Case-Control Studies ; Colombia ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Male ; Middle Aged ; Mutation ; Parkinson Disease/genetics ; Parkinson Disease/physiopathology ; Protein-Serine-Threonine Kinases/genetics
Chemical Substances	LRRK2 protein, human (EC 2.7.11.1) ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2015-09-30
Publishing country	Colombia
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2059694-7
ISSN	1657-9534 ; 0120-8322
ISSN (online)	1657-9534
ISSN	0120-8322
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Article: Comparative study of elderly-onset rheumatoid arthritis and young-onset rheumatoid arthritis in a Colombian population: clinical, laboratory and HLA-DRB1 findings.

Spinel-Bejarano, Néstor / Quintana, Gerardo / Heredia, Rodrigo / Yunis, Juan José / Caminos, Jorge E / Garcés, Maria F / Rondon, Federico / Iglesias-Gamarra, Antonio

Clinical and experimental rheumatology

2013 Volume 31, Issue 1, Page(s) 40–46

Abstract: Objectives: Elderly-onset rheumatoid arthritis (EORA) is considered to have different features in relation to young-onset rheumatoid arthritis (YORA). However, results from different evaluated populations worldwide have been inconsistent and in Colombia ...

Abstract	Objectives: Elderly-onset rheumatoid arthritis (EORA) is considered to have different features in relation to young-onset rheumatoid arthritis (YORA). However, results from different evaluated populations worldwide have been inconsistent and in Colombia there are no known descriptions of the differences between these pathologies. The aim of this paper is to compare the clinical, laboratory and immunogenetic features in a Colombian population suffering with EORA and YORA. Methods: EORA (≥65, n=104) and YORA (<65, n=96) patients were compared regarding clinical, laboratory and HLA-DRB1 alleles features. A control group without rheumatoid arthritis over 65 (n=179) was used to compare the HLA-DRB1 alleles. All patients met the ACR/1987 criteria for rheumatoid arthritis and the clinimetric index was calculated. Results: The gender ratio (female/male) was 1.8:1 in EORA. In both groups, the main onset pattern of disease was an insidious polyarticular onset (p=0.35). EORA was characterised by more distal-proximal joint involvement in comparison to YORA (p=0.0007). In EORA, the rheumatoid factor and anti-cyclic citrullinated peptide (anti-CCP) antibodies frequency was close to 50%, lower than in YORA (63%). In both groups, the DAS28 and HAQ-DI score was higher than 6 and 1, respectively. The HLA-DRB10403 and 1402 frequency was significantly higher in EORA than in YORA. Also, the shared epitope (p=0.0392), HLA-DRB101 (p=0.0068) and 0101 (p=0.0151) were associated with an anti-CCP positivity and the HLA-DRB10403 is protective for the anti-CCP presence in EORA (p=0.0201). Conclusions:* EORA is characterised by a different clinical presentation and HLA-DRB1 alleles with respect to YORA. HLA-DRB10403 and 1402 are significantly more frequent in EORA compared to YORA.
MeSH term(s)	Adult ; Age of Onset ; Aged ; Analysis of Variance ; Arthritis, Rheumatoid/diagnosis ; Arthritis, Rheumatoid/epidemiology ; Arthritis, Rheumatoid/genetics ; Arthritis, Rheumatoid/immunology ; Biomarkers/blood ; Case-Control Studies ; Chi-Square Distribution ; Colombia/epidemiology ; Cross-Sectional Studies ; Disability Evaluation ; Female ; Gene Frequency ; HLA-DRB1 Chains/genetics ; Humans ; Male ; Middle Aged ; Odds Ratio ; Peptides, Cyclic/immunology ; Prevalence ; Rheumatoid Factor/blood ; Risk Factors ; Severity of Illness Index
Chemical Substances	Biomarkers ; HLA-DRB1 Chains ; HLA-DRB101 antigen ; HLA-DRB104:03 antigen ; Peptides, Cyclic ; cyclic citrullinated peptide ; Rheumatoid Factor (9009-79-4)
Language	English
Publishing date	2013-01
Publishing country	Italy
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	605886-3
ISSN	1593-098X ; 0392-856X
ISSN (online)	1593-098X
ISSN	0392-856X
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Article: Parental origin, nondisjunction, and recombination of the extra chromosome 21 in Down syndrome: a study in a sample of the Colombian population.

Ramírez, Nelson Javier / Belalcázar, Helen Marcela / Yunis, Juan José / Quintero, Luis Napoleón / Arboleda, Gonzalo Humberto / Arboleda, Humberto

Biomedica : revista del Instituto Nacional de Salud

2007 Volume 27, Issue 1, Page(s) 141–148

Abstract: Introduction: Free trisomy 21 is responsible for 95% of Down syndrome cases. Advanced maternal age and susceptible recombination patterns are recognized risk factors associated to Down syndrome. Maternal origin of trisomy occurs in approximately 90% of ... ...

Abstract	Introduction: Free trisomy 21 is responsible for 95% of Down syndrome cases. Advanced maternal age and susceptible recombination patterns are recognized risk factors associated to Down syndrome. Maternal origin of trisomy occurs in approximately 90% of cases; paternal and mitotic origin share the remaining 10%. However, the recombination events that serve as a risk factors for trisomy 21 have not been carefully characterized. Objective: To analyze and validate observations in a sample of Colombian trysonomy 21 cases. Materials and methods: Twenty-two Colombian families were selected, each with one affected Down syndrome (free trisomy 21) child. Microsatellite polymorphisms were used as DNA markers to determine the parental/stage origin of non-disjunction and recombination events. Non-parametric tests were used to compare our results with those reported. Multiple correspondence analysis was used to outline different groups and their associations. Results: Distribution of trisomy 21 was 90.9% maternal, 4.5% paternal and 4.5% from mitotic origin, similar to distributions reported previously. However, we found differences in the frequency of maternal meiotic stage errors between the present study (46.1% meiosis I and 53.9% meiosis II) compared to those reported previously (70% meiosis I and 30% meiosis II). Multiple correspondence analyses showed association of either local recombination events or absence of recombination with specific non-disjunction stages. Conclusions: Recombination patterns found in this study support the hypothesis that susceptible chiasmate configurations are associated to maternal meiosis I and meiosis II errors. Non-disjunction frequencies between maternal meiotic stages need to be clarified in our population.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, Pair 21/genetics ; Colombia ; Down Syndrome/genetics ; Female ; Humans ; Infant ; Male ; Middle Aged ; Nondisjunction, Genetic ; Parents ; Recombination, Genetic
Language	English
Publishing date	2007-03
Publishing country	Colombia
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	0120-4157
ISSN	0120-4157
DOI	/S0120-41572007000100013
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