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1.
Am J Med Genet C Semin Med Genet ; 184(4): 939-954, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33191626

RESUMO

Our 25 years of experience in carrier diagnosis of hemophilia A (HA) and B (HB) in Mexican population comprises linkage analysis of intragenic F8/F9 neutral variants along with, in severe HA (SHA), detection of F8 int22h and int1h inversions. In symptomatic carriers (SCs) we explored Lyonization to explain their symtomatology. From a DNA-Bank of 3,000 samples, intragenic restriction fragment length (RFLPs) and short tandem repeats (STRs) of F8/F9 genes were assessed by PCR-PAGE and GeneScan. In SHA patients, F8 inversions were detected by inverse shifting-PCR/diagnostic and complementary tests. In SCs, we evaluated hemorrhagic symptoms, clotting FVIII/FIX and X-chromosome inactivation (XCI) patterns were assessed by HUMARA assay and the search of XIST promoter pathogenic variants. Informativeness of linkage analysis for HA carrier diagnosis with RFLP's/STR's increased to 74% and reached 80% with five RFLPs for HB. Combined Inv22/Inv1 diagnosed 113 possible carriers, three de novo Inv22-1, and confirmed 45 mothers as obligate or sporadic carriers. Among 21 SCs, four showed extreme skewed XCI pattern (~80:20) but had normal karyotype and no C43G pathogenic variant in XIST promoter. Clotting FVIII/FIX correlated with the active X in leukocytes. Our data integrate the largest comprehensive research worldwide on the molecular diagnosis of HA and HB carriers in terms of the number of studied and diagnosed cases, in addition to the genetic analysis in SCs. Intragenic RFLPs and STRs of F8/F9 genes along with F8 int22h/int1h inversions in SHA emerge as optimal variants for molecular diagnosis in Mexican population. In counseling SCs, inheritance of skewed X-inactivation should be considered.


Assuntos
Hemofilia A , Inversão Cromossômica , Fator VIII/genética , Testes Genéticos , Hemofilia A/diagnóstico , Hemofilia A/genética , Humanos , Reação em Cadeia da Polimerase
2.
Blood Cells Mol Dis ; 83: 102423, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32224444

RESUMO

INTRODUCTION: Molecular analysis in haemophilia is currently used in the diagnosis, treatment and prognosis of this disease. Hispanic populations in Latin America have been of interest to researchers due to the reportedly high prevalence of inhibitors in these patients. AIM: To perform next-generation sequencing (NGS) in a cohort of Mexican patients with HA and HB and correlate with clinical phenotypes. METHODS: Patients with Haemophilia A (HA) or haemophilia B (HB), were evaluated using NGS with an Ion AmpliSeq Custom Panel. Odds ratios (ORs) for associations between F8 variants and inhibitors were obtained. RESULTS: A total of 85 patients (60 with HA and 25 with HB) were included. Pathogenic variants in F8 were found in 93.3% of HA patients and in F9 in 96% of HB patients. Twelve novel potentially pathogenic variants were found. Inhibitors were observed in 20% of patients with severe HA. Four patients clinically diagnosed with HA were negative for F8 variants. CONCLUSION: Overall detection rate of pathogenic variants in F8 and F9 genes was 94.6%. We identified 12 non previously reported variants and pathogenic variants in other coagulation related genes. Molecular diagnosis of HA and HB permits better options for management, assessment and genetic counseling.


Assuntos
Hemofilia A/genética , Hemofilia B/genética , Mutação , Estudos de Coortes , Fator VIII/química , Fator VIII/genética , Predisposição Genética para Doença , Hemofilia A/diagnóstico , Hemofilia A/epidemiologia , Hemofilia B/diagnóstico , Hemofilia B/epidemiologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , México/epidemiologia , Modelos Moleculares
3.
Tohoku J Exp Med ; 251(4): 327-336, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32788506

RESUMO

After the first cases of COVID-19 appeared in Wuhan, China at the end of 2019, the disease quickly become a pandemic that has seriously affected the economic and health systems in more than 200 countries and territories around the world. Although most patients have mild symptoms or are even asymptomatic, there are patients who can develop serious complications such as acute respiratory distress syndrome or venous thromboembolism requiring mechanical ventilation and intensive care. Hence, it is important to identify patients with a higher risk of complications in a timely manner. Thus, the objective of this paper is to review the hematological laboratory parameters that consistently are altered in COVID-19 and to identify their relationship with the severity of the disease. According to 11 selected reports, the frequency of patients aged > 65 years is higher among subjects severely affected or deceased; likewise, males predominantly suffer from comorbidities such as hypertension, diabetes or obesity. Retrospective studies have identified alterations in various hematological and inflammatory parameters as part of the host's response to infection and a secondary increased risk of different thrombotic events. Among these altered parameters, D-dimer, C-reactive protein, and interleukin-6 have been tested as prognostic biomarkers due to their close relationship with the severity of the disease. Actually, they can reliably indicate the use of antithrombotic therapy at prophylactic or therapeutic doses (mainly D-dimer), as has already been established in those patients who, after an individualized assessment, appear to be at high risk for thrombotic events.


Assuntos
Anticoagulantes/uso terapêutico , Betacoronavirus , Transtornos da Coagulação Sanguínea/etiologia , Infecções por Coronavirus/sangue , Fibrinolíticos/uso terapêutico , Pandemias , Pneumonia Viral/sangue , Fatores Etários , Betacoronavirus/patogenicidade , Betacoronavirus/fisiologia , Biomarcadores , Transtornos da Coagulação Sanguínea/tratamento farmacológico , Transtornos da Coagulação Sanguínea/prevenção & controle , Testes de Coagulação Sanguínea , COVID-19 , Comorbidade , Infecções por Coronavirus/complicações , Infecções por Coronavirus/epidemiologia , Gerenciamento Clínico , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Hemofilia A/complicações , Humanos , Inflamação , Interleucina-6/sangue , Pneumonia Viral/complicações , Pneumonia Viral/epidemiologia , Prognóstico , Risco , SARS-CoV-2 , Trombofilia/diagnóstico , Trombofilia/tratamento farmacológico , Trombofilia/etiologia , Trombose/etiologia , Trombose/prevenção & controle
4.
BMC Bioinformatics ; 20(1): 363, 2019 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-31253089

RESUMO

BACKGROUND: Missense mutations in the first five exons of F9, which encodes factor FIX, represent 40% of all mutations that cause hemophilia B. To address the ongoing debate regarding in silico identification of disease-causing mutations at these exons, we analyzed 215 missense mutations from www.factorix.org using six in silico prediction tools, which are the most common used programs for analysis prediction of impact of mutations on the protein structure and function, with further advantage of using similar approaches. We developed different algorithms to integrate multiple predictions from such tools. In order to approach a structural analysis on FIX we performed a modeling of five selected pathogenic mutations. RESULTS: SIFT, PolyPhen-2 HumDiv, SNAP2, and MutationAssessor were the most successful in identifying true non-causative and causative mutations. A proposed function integrating these algorithms (wgP4) was the most sensitive (90.1%), specific (22.6%), and accurate (87%) than similar functions, and identified 187 variants as deleterious. Clinical phenotype was significantly associated with predicted causative mutations at all five exons. However, PolyPhen-2 HumDiv was more successful in linking clinical severity to specific exons, while functions that integrate 4-6 predictions were more successful in linking phenotype to genotypes at the light chain (exons 3-5). The most important value of integrating multiple predictions is the inclusion of scores derived from different approaches. Modeling of protein structure showed the effects of pathogenic nsSNPs on structure and function of FIX. CONCLUSIONS: A simple function that integrates information from different in silico programs yields the best prediction of mutated phenotypes. However, the specificity, sensitivity, and accuracy of genotype-phenotype predictions depend on specific characteristics of the protein domain and the disease of interest as we validated by the structural analysis of selected pathogenic F9 mutations. The proposed function integrating algorithm (wgP4) might be useful for the analysis of nsSNPs impact on other genes.


Assuntos
Biologia Computacional/métodos , Simulação por Computador , Éxons/genética , Fator IX/genética , Hemofilia B/genética , Mutação de Sentido Incorreto , Algoritmos , Genótipo , Humanos , Fenótipo
5.
Blood Cells Mol Dis ; 71: 45-52, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29544691

RESUMO

Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development. We aimed to investigate prevalence of Inv22 and Inv1 mutations, and its association as risk factors for developing inhibitors to FVIII. We investigated Inv22 and Inv1 in 255 SHA Mexican patients from 193 unrelated families using the inverse shifting-polymerase chain reaction (IS-PCR). We analyzed the association between inversions and inhibitor development via logistic regression introducing as covariates the populations, the inversions, F8-haplotypes and the age of patients at enrollment. Inv22 was found in 91/193 (47.2%: 38.9% exhibited Inv22-1 and 8.3% Inv22-2), and Inv1 in 2/193 (1.0%) independent families. Absolute inhibitor prevalence (IP) for Inv22 in unrelated patients was 15% (10-19). The cohorts and age of patients were independent predictors of inhibitor risk, but not inversions or haplotypes. Inversions presence in our population was associated to a moderate risk of developing inhibitors. Inv1 was found for the first time in two Mexican families. A relevant genetic component was observed by the strong concordance among brother-pairs.


Assuntos
Inibidores dos Fatores de Coagulação Sanguínea/imunologia , Inversão Cromossômica , Fator VIII/genética , Hemofilia A/genética , Hemofilia A/imunologia , Íntrons , Isoanticorpos/imunologia , Adolescente , Adulto , Inibidores dos Fatores de Coagulação Sanguínea/sangue , Criança , Pré-Escolar , Haplótipos , Hemofilia A/diagnóstico , Hemofilia A/tratamento farmacológico , Humanos , Lactente , Isoanticorpos/sangue , Masculino , Pessoa de Meia-Idade , Medição de Risco , Adulto Jovem
6.
Int J Immunogenet ; 44(6): 279-285, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29057607

RESUMO

To estimate the frequency of monoclonal B cells in Mexican general population from two different regions of Mexico. Monoclonal B cells were detected by rearrangements of the immunoglobulin heavy chains (IGH) in 288 individuals: 188 from a metropolitan area and 100 from a rural area. After DNA extraction from peripheral blood by the CTAB/DTAB method, multiplex PCR was used to amplify the IGH rearrangements, followed by capillary electrophoresis. In together, 9.4% of the studied individuals showed monoclonal B cells. This prevalence is significantly higher to those previously described for other populations, but similar to a report in the Spanish population. Among people from the metropolitan area, 12.8% exhibited monoclonal B cells in comparison with 3% of people from the rural area. All individuals showing monoclonal B cells were elder than 40 years. Higher frequency of incomplete monoclonal rearrangements was observed. Individuals from urban areas show significantly increased frequencies of monoclonal B cells regarding the people from the rural area. It is reasonable to believe that the environmental factor could have a greater impact on the development of monoclonality than the genetic component.


Assuntos
Linfócitos B/metabolismo , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Células Clonais , Feminino , Rearranjo Gênico de Cadeia Pesada de Linfócito B/genética , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Masculino , México , Pessoa de Meia-Idade , População Rural , População Urbana , Adulto Jovem
7.
Gac Med Mex ; 151(3): 399-402, 2015.
Artigo em Espanhol | MEDLINE | ID: mdl-26089277

RESUMO

The diagnosis of von Willebrand disease (vWD) is complex and requires several screening and confirmation tests, such as the analysis of vWF multimers, which is considered the gold standard for vWD subtyping; however, it only discriminates 2A subtype while the 2B, 2M, and 2N subtypes require additional tests and even genetic testing for final confirmation. It is important to consider the patients' hemotype for the vWD diagnosis, particularly in Mexico where hemotype "O" predominates and may entail a 20-25% decreased level of plasma vWF and increased bleeding tendency.


Assuntos
Algoritmos , Testes Genéticos/métodos , Doenças de von Willebrand/diagnóstico , Sistema ABO de Grupos Sanguíneos/análise , Humanos , México , Doenças de von Willebrand/fisiopatologia
8.
Gac Med Mex ; 151(2): 266-9, 2015.
Artigo em Espanhol | MEDLINE | ID: mdl-25946539

RESUMO

Artificial skin offers important advantages in gene therapy tor its biosafety and simple monitoring. An easy access of keratinocytes through small biopsies and their in vitro expansion enriched with epithelial stem cells, make them an ideal target for long-term therapeutic transgene expression. Corrective cutaneous gene therapy has been recently applied in clinical trials on dermatological genetic diseases. In systemic monogenic diseases such as hemophilia B, the graft of genetically modified skin in murine experimental models has achieved a modest increase of clotting factor IX in plasma that may attenuate severe symptoms of the disease.


Assuntos
Terapia Genética/métodos , Hemofilia B/terapia , Pele Artificial , Hemofilia B/genética , Humanos , Dermatopatias/genética , Dermatopatias/terapia
9.
Life (Basel) ; 14(10)2024 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-39459632

RESUMO

Globally, intron 22 inversions (Inv22s) of the factor VIII gene (F8) are the most frequent pathogenic variants and account for 45-50% of severe hemophilia A (SHA) cases, while intron 1 inversion (Inv1) explains 1-5% of SHA cases. The detection of both inversions by an inverse shifting-polymerase chain reaction (IS-PCR) is the first choice worldwide for the diagnosis of patients and carriers of SHA. To improve its sensitivity and reproducibility in the visualization of PCR products, we approached the IS-PCR with fluorescent capillary electrophoresis instead of agarose electrophoresis. Based on the original protocol, we modified two primers by 5'-end labeling with FAM™ fluorescent dye for the detection of the PCR products by capillary electrophoresis. Additionally, the "fast enzymes" BclI and T4-Ligase were incorporated for work saving in the genomic digestion and ligation reactions, respectively. Once we accomplished the standardization and verified the reproducibility of the modified IS-PCR method, we applied it for the diagnosis of a cohort of SHA patients and carriers. The modified IS-PCR by fluorescent capillary electrophoresis for PCR product detection is more sensitive than agarose electrophoresis. The method was also improved by using the new rapid enzymes to save time in the whole process.

10.
Mol Genet Genomic Med ; 7(11): e979, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31566926

RESUMO

BACKGROUND: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity. METHODS: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα-308G>A and -238G>A, ACAN VNTR, and IL1RN*2-VNTR were identified. RESULTS: Patients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα-308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041). CONCLUSIONS: The distribution of risk genotypes for MTHFR and TNFα-308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations.


Assuntos
Cartilagem/patologia , Marcadores Genéticos , Hemartrose/diagnóstico , Hemofilia A/fisiopatologia , Inflamação/diagnóstico , Adolescente , Cartilagem/metabolismo , Criança , Pré-Escolar , Feminino , Hemartrose/epidemiologia , Hemartrose/genética , Humanos , Incidência , Lactente , Recém-Nascido , Inflamação/epidemiologia , Inflamação/genética , Masculino , México/epidemiologia , Prognóstico
11.
Gac Med Mex ; 144(2): 171-4, 2008.
Artigo em Espanhol | MEDLINE | ID: mdl-18590038

RESUMO

X chromosome inactivation is a stochastic event that occurs early in female embryo development to achieve dosage compensation with males. Certain genetic mechanisms affect the normal process causing a skewed X inactivation pattern which has clinical relevance in female carriers of X-linked recessive disorders, like haemophilia. The most commonly used assay to evaluate the X inactivation pattern is the PCR amplification of the human androgen receptor gene (HUMARA). The use of this technique in bleeding carriers and women with haemophilia allows identifying if their hemorrhagic symptoms are due to an unfavourable lyonization. Furthermore, these studies are important for understanding the X chromosome inactivation process in humans.


Assuntos
Hemofilia A/genética , Heterozigoto , Inativação do Cromossomo X , Feminino , Marcadores Genéticos , Humanos , Receptores Androgênicos/genética
12.
Thromb Res ; 136(6): 1291-8, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26493603

RESUMO

BACKGROUND: Thrombin generation assay (TGA) is useful as a global functional test for assessing bleeding or thrombotic risk and its modification with therapy. We investigated TGA to assess anticoagulation status compared with the international normalized ratio (INR) system in patients with primary thrombophilia receiving and not undergoing thromboprophylaxis. MATERIALS AND METHODS: We studied 50 patients with at least one thrombotic event and a confirmed diagnosis of inherited thrombophilia. Thrombin generation was measured in platelet-poor plasma by calibrated automated thrombography (CAT). RESULTS: Patients in optimal anticoagulation (INR: 2.0-3.0) showed an endogenous thrombin potential (ETP) of 14-56% of normal and a peak of 18-55% of normal. A significant inverse relationship between INR and thrombin generation parameters (ETP, peak and velocity index) and a linear correlation for lag time was found in patients treated with vitamin-K antagonists (VKA). Receiver-operating characteristics (ROC) analysis showed that the optimal cutoff for ETP was 1600.2 nM · min (111.6% of normal, with a sensitivity of 96.6% and a specificity of 92.9%) and for the peak was 298.3 nM (112.1% of normal, with a sensitivity of 96.4% and a specificity of 100%). According to this analysis, ETP was able to identify patients with increased thrombotic and hemorrhagic risk, correlating with severe clinical complications. CONCLUSION: TGA showed excellent sensitivity and specificity for assessing anticoagulation status in patients with primary thrombophilia receiving VKA, with significant advantages with regard to INR. Clinical data strongly support ETP as a valuable indicator of thrombotic or hemorrhagic risk in patients receiving or not receiving thromboprophylaxis.


Assuntos
Trombina/química , Trombofilia/genética , Trombofilia/prevenção & controle , Adulto , Anticoagulantes/química , Calibragem , Estudos de Coortes , Feminino , Voluntários Saudáveis , Hemorragia/complicações , Heterozigoto , Humanos , Coeficiente Internacional Normatizado , Masculino , Pessoa de Meia-Idade , Tempo de Tromboplastina Parcial , Tempo de Protrombina , Curva ROC , Fatores de Risco , Tromboelastografia , Trombose/complicações , Vitamina K/antagonistas & inibidores , Adulto Jovem
14.
Am J Hematol ; 82(4): 283-7, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17211847

RESUMO

Hemophilia A (HA) is one of the most common inherited bleeding disorders caused by FVIII gene mutations. Inversion of intron 22 (inv22) originates 50% of cases of severe HA and is a major risk factor for inhibitor development. Inversion of intron 1 (inv1) has been reported to occur in 2-3% of severe HA patients. We studied both inversions to determine their frequencies in Mexican patients with severe HA and to compare these data with other HA populations. The inv22 was evaluated as a risk factor for FVIII inhibitor development in severe HA patients. We studied 44 patients from 31 severe HA families for the detection of inv22 and 94 patients from 65 families to detect inv1. We used the subcycling long-distance PCR to detect inv22 and rapid PCR in duplex reactions to detect inv1. We found a frequency of 45% for the inv22 and no inv1-positive patients (0%). These frequencies were not statistically different from other populations, although haplotype analyses of FVIII gene and telomeric regions should be incorporated to explore population-specific variation of inv1 frequencies. Inv22-positive patients showed 1.88X higher risk for developing inhibitors with respect to patients carrying other severe mutations; however, this OR value was not significant. Our findings confirm inv22 as a hot-spot for severe HA and evidence the low frequency of inv1 in a Mexican population. The non-significant risk for developing inhibitors among inv22-positive patients agrees with the variety of genetic and non-genetic factors involved in such a complication.


Assuntos
Inversão Cromossômica/genética , Fator VIII/genética , Hemofilia A/genética , Íntrons/genética , Isoanticorpos/efeitos adversos , Inversão Cromossômica/estatística & dados numéricos , Estudos de Coortes , Estudos Transversais , Fator VIII/imunologia , Frequência do Gene , Hemofilia A/terapia , Humanos , Isoanticorpos/imunologia , México , Razão de Chances
15.
Gac. méd. Méx ; Gac. méd. Méx;144(2): 171-174, mar.-abr. 2008. ilus
Artigo em Espanhol | LILACS | ID: lil-568108

RESUMO

La inactivación del cromosoma X es un fenómeno estocástico que ocurre en la embriogénesis temprana femenina para lograr una compensación de dosis génica respecto a los varones. Ciertos mecanismos genéticos afectan el proceso normal, propiciando una inactivación sesgada con efectos clínicos relevantes en portadoras de trastornos recesivos ligados al cromosoma X, como la hemofilia. La herramienta molecular mayormente utilizada para la evaluación del patrón de inactivación del cromosoma X es la amplificación por PCR del gen del receptor de andrógenos humano (HUMARA). El empleo de esta técnica en portadoras sintomáticas y mujeres con hemofilia permite esclarecer si las manifestaciones de la enfermedad se deben a una lyonización desfavorable. Estos estudios, además, son importantes para la comprensión del proceso de inactivación del cromosoma X en humanos.


X chromosome inactivation is a stochastic event that occurs early in female embryo development to achieve dosage compensation with males. Certain genetic mechanisms affect the normal process causing a skewed X inactivation pattern which has clinical relevance in female carriers of X-linked recessive disorders, like haemophilia. The most commonly used assay to evaluate the X inactivation pattern is the PCR amplification of the human androgen receptor gene (HUMARA). The use of this technique in bleeding carriers and women with haemophilia allows identifying if their hemorrhagic symptoms are due to an unfavourable lyonization. Furthermore, these studies are important for understanding the X chromosome inactivation process in humans.


Assuntos
Humanos , Feminino , Heterozigoto , Hemofilia A/genética , Inativação do Cromossomo X , Marcadores Genéticos , Receptores Androgênicos/genética
17.
Rev. invest. clín ; Rev. invest. clín;53(5): 401-406, sept.-oct. 2001. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-326693

RESUMO

Antecedentes: Las repeticiones cortas en tándem o S TR s (short tandem repeats) localizadas en la región no seudo-autosómica del cromosoma Y , son marcadores moleculares utilizados para obtener la huella genética del DNA específicamente en varones, lo cual permite resolver casos especiales en el campo de la Medicina Legal. Analizando varios S TR s para formar haplotipos del cromosoma Y , se pueden solucionar de manera sencilla pruebas de paternidad donde el supuesto padre no está disponible, así como situaciones forenses, como casos de violación donde se encuentran mezclas de DNA de hombre y mujer. Métodos: Cinco STRs del cromosoma Y recientemente informados: A4, A7.1, A7.2, A10 y C4 (White et al. 1999) fueron tipificados en 101 mestizos mexicanos del Noroeste de México mediante PCR, electroforesis en gel de poliacrilamida y tinción de plata. Resultados: Se estimaron frecuencias alélicas de cada S TR . El rango de diversidad genética de estos marcadores fue de 57.1 por ciento para A-4 a 74.7 por ciento para C-4. Con excepción de A-4, las distribuciones alélicas de los cinco S TR s fueron similares (p>0.05) a la del reporte original. Se observaron 75 haplotipos diferentes de los 98 haplotipos completos obtenidos. Este sistema de cinco S TR s presentó una diversidad haplotípica de 99.0 por ciento y una capacidad de discriminación de 77.5 por ciento (76/98) en la muestra poblacional estudiada. Conclusiones: Estos marcadores STRs del cromosoma Y representan un gran potencial para identificar varones y líneas paternas, y pueden usarse confiablemente para lograr exclusiones en pruebas forenses y de paternidad en población mexicana.


Assuntos
Humanos , Masculino , Pegada de DNA , Haplótipos , México , Sequências de Repetição em Tandem , Cromossomo Y , Marcadores Genéticos , Variação Genética , Paternidade
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