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Provedor de dados:  Genet. Mol. Biol.
País:  Brazil
Título:  Systematic molecular analysis of hemophilia A patients from Colombia
Autores:  Yunis,Luz Karime
Linares,Adriana
Cabrera,Edgar
Yunis,Juan J.
Data:  2018-12-01
Ano:  2018
Palavras-chave:  Hemophilia A
Factor VIII
IS-PCR
HRM
Colombia
Resumo:  Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effective strategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1, followed by the analysis of the F8 gene coding region by means of high resolution melting (HRM) PCR and Sanger sequencing in Inv22 and Inv1 negative patients. A total of 33 male HA patients and 6 women were analyzed. Inversion 22 was detected in 14/33 male patients (42.4%), 3/33 (9.1%) had Inv1, 3/33 (9.1%) had large structural variants, and 11/33 (33.3%) single nucleotide/ small frameshift variants. No genetic variant was found in 2/33 patients (6%). With this systematic approach we detected pathogenic variants in 31 out of 33 male affected individuals (94%) tested for the first time.in a cohort of patients from Colombia.
Tipo:  Info:eu-repo/semantics/article
Idioma:  Inglês
Identificador:  http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500750
Editor:  Sociedade Brasileira de Genética
Relação:  10.1590/1678-4685-gmb-2017-0072
Formato:  text/html
Fonte:  Genetics and Molecular Biology v.41 n.4 2018
Direitos:  info:eu-repo/semantics/openAccess
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