1个有遗传性A群着色性干皮病的中国家庭的基于DNA的产前诊断

作者：张宪旗

来源：世界核心医学期刊文摘(儿科学分册), 2005, (01): 9.

Background: Xeroderma pigmentosum (XP) is a group of autosomal recessive diseases characterized by hypersensitivity to ultraviolet rays. Among its eight complementation groups, XP group A (XPA) is the most severe type. The XPAC gene has been identified as the defective gene in XPA patients. Objectives: To examine genomic DNA from a Chinese family with XPA, to determine the XPAC mutation and, after genetic counselling, to undertake DNA based prenatal diagnosis in a subsequent pregnancy. Methods: Fetal DNA was extracted from amniotic fluid and used to amplify exon 5 of XPAC containing the potentialmutation. Direct sequencing and restriction endonuclease digestion were used for prenatal diagnosis. Results: We identified a homozygous nonsenseXPAC mutation of 631C→T, which results in an R211X mutation in XPA protein, in the proband. Both her parents are heterozygous. Prenatal diagnosis demonstrated a heterozygous sequence predicting an unaffected child, and a healthy girl was born. Conclusions: These data provide the first example of a DNA based prenatal test for genodermatosis in China.