由于凝血因子VIII基因第7外显子中谷氨酸被甘氨酸取代导致的中度严重甲型血友病。
Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.
作者信息
Youssoufian H, Wong C, Aronis S, Platokoukis H, Kazazian H H, Antonarakis S E
机构信息
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
出版信息
Am J Hum Genet. 1988 Jun;42(6):867-71.
To define the molecular basis of a TaqI site alteration in the factor VIII gene of a patient with moderately severe hemophilia A, we used a combination of genomic amplification followed by direct sequencing and oligonucleotide hybridization, to demonstrate an A-to-G substitution in exon 7 (codon 291) of this gene. This mutation generates a Gly in place of Glu at amino acid 272 of the mature factor VIII protein. The mutation arose de novo in a germ cell of the patient's mother.
为确定一名中度严重甲型血友病患者因子VIII基因中TaqI位点改变的分子基础，我们采用了基因组扩增后直接测序与寡核苷酸杂交相结合的方法，以证明该基因第7外显子（密码子291）发生了A到G的替换。此突变导致成熟因子VIII蛋白第272位氨基酸处的Glu被Gly取代。该突变是在患者母亲的一个生殖细胞中新生的。
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