中国当代儿科杂志Issue(9)：903-907,5.DOI:10.7499/j.issn.1008-8830.2015.09.003
7个血友病A家系基因型与临床表型分析
Relationship between genotypes and clinical phenotypes in patients from 7 hemophilia A families
摘要
Abstract
Objective To study the mutation types of factor VIII (FVIII) gene in patients from 7 hemophilia A (HA) families and the relationship between FVIII gene mutations and clinical phenotypes. Methods A total of 8 patients from 7 HA families were recruited. The activated partial thromboplastin time (APTT) and factor VIII coagulant activity (VIII:C) in these patients were measured. Polymerase chain reaction (PCR) was performed to analyze FVIII gene intron 1 and 22 inversions. For patients without the FVIII intron inversions, direct sequencing was performed to determine their mutation types and other related members of their families were also tested by PCR and sequencing to analyze the corresponding mutation sites. Results The ranges of APTT and VIII:C of the 8 patients were 91.6-131 seconds and 0.8%-2%, respectively. FVIII gene intron 22 inversion was not detected, while intron 1 inversion was detected in one patient. There were 5 types of mutations in FVIII gene detected in the remaining 7 patients, including 6 patients with mutations in exon 14 and 1 patient with mutation in exon 23;all of the 5 types of mutations were single nucleotide mutations. Among the detected mutations in FVIII gene, p.His1202LeufsX16 (c.3666delA) detected in one patient was found to be a previously unreported mutation in FVIII gene. Conclusions FVIII gene exon 14 is a hot-spot mutation region and p.His1202LeufsX16 is found to be a novel mutation in FVIII gene.关键词
血友病A/基因型/临床表型Key words
Hemophilia A/Genotype/Clinical phenotype引用本文复制引用
梁伟玲,韦红英,廖宁,周竣荔..7个血友病A家系基因型与临床表型分析[J].中国当代儿科杂志,2015,(9):903-907,5.基金项目
广西科教委立项项目（201204X052）。 （）
