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Prenatal diagnosis in a family with mitochondrial acetoacetyl‐coenzyme a thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method
Author(s) -
Fukao Toshiyuki,
Wakazono Akihiro,
Song XiangQian,
Yamaguchi Seiji,
Zacharias Rebecca,
Donlan Michael A.,
Orii Tadao
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.1970150411
Subject(s) - prenatal diagnosis , compound heterozygosity , thiolase , heteroduplex , fetus , polymerase chain reaction , microbiology and biotechnology , mutation , biology , genetics , pregnancy , gene , peroxisome
Mitochondrial acetoacetyl‐coenzyme A (CoA) thiolase deficiency is an organic aciduria which affects isoleucine and ketone body catabolism. GK16 (the index patient) was affected with this disorder and previous studies had revealed that GK16 was a compound heterozygote with IVS8(+1) gt to tt and A301P mutations. In a subsequent pregnancy, prenatal diagnosis was performed and the fetus's amniocytes were analysed by the polymerase chain reaction (PCR) followed by the heteroduplex detection method on a Mutation Detection Enhancement gel. The fetus was identified as a carrier of the IVS8(+1) mutation. We confirmed the diagnosis by immunoblot analysis of extracted amniocytes and gene analysis with blood filter paper after delivery. This is the first report of prenatal diagnosis of this disorder at the gene level.