FⅨ gene all exons sequencing technology in hemophilia B gene carriers detection and the application of prenatal gene diagnosis / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 195-199, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-235465
ABSTRACT
<p><b>OBJECTIVE</b>To establish a feasible protocol to provide genetic diagnosis and prenatal diagnosis in Chinese hemophilia patients and their relatives by direct exon sequencing.</p><p><b>METHODS</b>In our study, genetic diagnosis was performed on 5 unrelated families with informed consent, which included 3 pregnant women who asked for prenatal diagnosis. Umbilical cord blood was obtained from 2 fetuses and amniotic fluid from another fetus. After extraction of the genomic DNA, all of the exons, exon-intron boundaries and their flanks of FⅨ gene were amplified by polymerase chain reaction (PCR). PCR products were detected through direct-sequencing.</p><p><b>RESULTS</b>Sequence analysis indicated that the patients and carriers from 5 families have the pathogenic mutations,c.1022G>A (p.R341Q), c.484 C>T (p. R162X), c.1135C>T (p.R379X), c.799C>T (p.H267Y), c.1232G>T (p.S411I), respectively. Except c.484 C>T (p. R162X), 4 of the 5 mutations were reported firstly in Chinese population. During prenatal diagnosis, one of the fetuses was found to be affected with c.484C>T; p.R162X. The remaining two fetuses were diagnosed as normal, the results of which were later verified by post-birth diagnosis, and factor FⅨ activities in plasma was 52.7% and 76.2%, respectively.</p><p><b>CONCLUSION</b>In the quest of strict quality control, exon sequence on FⅨ gene was a rapid and accurate method for genetic diagnosis and prenatal diagnosis of hemophilia B.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Diagnóstico Pré-Natal
/
Fator IX
/
Éxons
/
Hemofilia B
/
Análise de Sequência de DNA
/
Genética
/
Métodos
Tipo de estudo:
Estudo diagnóstico
/
Guia de Prática Clínica
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2013
Tipo de documento:
Artigo
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