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DNA‐based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A

Article first published online: 04 Jun 2004
DOI: 10.1111/j.1365-2133.2004.05938.x

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Summary

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.

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