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DNA‐based prenatal carrier detection for group a xeroderma pigmentosum in a chorionic villus sample
Author(s) -
Matsumoto Naomichi,
Saito Nakamichi,
Harada Naoki,
Tanaka Kiyoji,
Niikawa Norio
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150716
Subject(s) - xeroderma pigmentosum , proband , chorionic villus sampling , prenatal diagnosis , chorionic villi , fetus , polymerase chain reaction , microbiology and biotechnology , genetics , dna , genomic dna , biology , pregnancy , gene , mutation , dna repair
DNA‐based prenatal carrier detection of group A xeroderma pigmentosum (XP‐A) is reported. Chorionic villus sampling was done at the tenth gestational week in a pregnant woman whose first child suffers from XP‐A. Genomic DNAs from the villi, proband, and parents were PCR (polymerase chain reaction)‐amplified using three sets of primers, because the PCR and a subsequent enzyme digestion with Hph I, Alw NI, or Mse I may detect the three most frequent mutations of the XP‐A complementing gene ( XPAC ) in Japanese XP‐A patients. The results showed that the proband is a homozygote and that the parents and fetus are heterozygotes for a base substitution at the 3′ acceptor site of intron 3 of XPAC , indicating that the fetus is a healthy carrier of XP‐A. This is the first case of prenatal carrier detection of the disorder.