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Prenatal diagnosis in a family with X‐linked chronic granulomatous disease with the use of the polymerase chain reaction
Author(s) -
De Boer Martin,
Bolscher Ben G. J. M.,
Sijmons Rolf H.,
Scheffer Hans,
Weening Ron S.,
Roos Dirk
Publication year - 1992
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.1970120910
Subject(s) - polymerase chain reaction , prenatal diagnosis , chronic granulomatous disease , medicine , disease , pregnancy , fetus , pathology , immunology , genetics , biology , gene
In the X‐linked form of chronic granulomatous disease (X91° CGD), the genetic defect is linked to the CYBB locus on the X chromosome. We studied a family with a genetic defect in this gene, consisting of a G → A substitution at the fifth base of the 5′ donor splice site of intron 3. This mutation leads to skipping of exon 3 after transcription of the gene. The expectant mother was diagnosed as a carrier. Analysis of polymerase chain reaction (PCR)‐amplified genomic DNA from a chorionic villus biopsy (CVB) showed the same mutation in the male fetus. After termination of the pregnancy, the diagnosis was confirmed by conventional methods. This is the first time that PCR has been used for prenatal diagnosis of CGD.