IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A
Yang, Y; Ding, B; Wang, K; Bu, D; Tu, P; Zhu, X
关键词gene mutation prenatal diagnosis xeroderma pigmentosum group A
刊名BRITISH JOURNAL OF DERMATOLOGY
2004-06-01
DOI10.1111/j.1365-2133.2004.05938.x
150期:6页:1190-1193
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]MICE LACKING ; POINT MUTATION ; ULTRAVIOLET-B ; XPAC GENE ; PCR
英文摘要

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 potential mutation. Direct sequencing and restriction endonuclease digestion were used for prenatal diagnosis.

Results We identified a homozygous nonsense XPAC 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.

语种英语
WOS记录号WOS:000222685600021
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/68208
专题北京大学第一临床医学院_皮肤性病科
作者单位Peking Univ, Hosp 1, Dept Dermatol, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Yang, Y,Ding, B,Wang, K,et al. DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A[J]. BRITISH JOURNAL OF DERMATOLOGY,2004,150(6):1190-1193.
APA Yang, Y,Ding, B,Wang, K,Bu, D,Tu, P,&Zhu, X.(2004).DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A.BRITISH JOURNAL OF DERMATOLOGY,150(6),1190-1193.
MLA Yang, Y,et al."DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A".BRITISH JOURNAL OF DERMATOLOGY 150.6(2004):1190-1193.
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