Lee Jung H, Lee Hee J, Bin Joong H, Hahn Seung H, Kim So Y, Kim Hyun H, Lee Won B
Department of Pediatrics, College of Medicine, Holy Family Hospital, Catholic University of Korea, #2 Sosa-Dong,Wonmi-Gu, Pucheon-Si, Gyeonggi-Do, Korea.
Blood Coagul Fibrinolysis. 2009 Mar;20(2):161-4. doi: 10.1097/MBC.0b013e3283258028.
A term male infant born to nonconsanguineous parents was admitted to the hospital for evaluation of lethargy and a pale appearance on the third day of life. He had anemia from an intracranial hemorrhage, and his coagulation factor assay revealed that his bleeding episode was due to severe congenital factor VII deficiency (5% of normal activity). An A-to-G point mutation in the acceptor splice site of intron 5 was identified at nucleotide position 9418. Sequence analysis of the factor VII gene in the parents revealed that they were both heterozygous for a G-to-A transversion at nucleotide position 9418 (IVS5-1) between intron 5 and exon 6. A genetic study involving a patient with a congenitally inherited disease and the parents can confirm the genetic background of the disease and can be used for prenatal guidance to exclude severe bleeding disorders.
一名非近亲结婚父母所生的足月男婴，在出生第三天因嗜睡和面色苍白入院评估。他因颅内出血而贫血，凝血因子检测显示其出血发作是由于严重的先天性因子VII缺乏（正常活性的5%）。在核苷酸位置9418处，发现内含子5的受体剪接位点存在A到G的点突变。对父母的因子VII基因进行序列分析发现，他们在第5内含子和第6外显子之间的核苷酸位置9418（IVS5-1）处均为G到A转换的杂合子。一项涉及先天性遗传疾病患者及其父母的基因研究可以确认疾病的遗传背景，并可用于产前指导以排除严重出血性疾病。
