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FIRST‐TRIMESTER PRENATAL MOLECULAR DIAGNOSIS OF INFANTILE HYPOPHOSPHATASIA IN A JAPANESE FAMILY
Author(s) -
ORIMO HIDEO,
NAKAJIMA EIITSU,
HAYASHI ZUISEI,
KIJIMA KAZUHIRO,
WATANABE ATSUSHI,
TENJIN HISAKO,
ARAKI TSUTOMU,
SHIMADA TAKASHI
Publication year - 1996
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/(sici)1097-0223(199606)16:6<559::aid-pd897>3.0.co;2-a
Subject(s) - proband , prenatal diagnosis , hypophosphatasia , restriction fragment length polymorphism , chorionic villus sampling , genotype , genetics , fetus , chorionic villi , biology , medicine , obstetrics , pregnancy , mutation , alkaline phosphatase , enzyme , biochemistry , gene
We obtained a prenatal molecular diagnosis during the first trimester in a Japanese woman whose first child (the proband) had been a compound heterozygote for infantile hypophosphatasia. We examined chorionic villus DNA samples obtained at 10 weeks of gestation for the base substitutions detected in the proband DNA using polymerase chain reaction (PCR)–restriction fragment length polymorphism (RFLP) and PCR–allele‐specific oligonucleotide (ASO) analysis. The genotype of the fetus was the same as that of the proband. The same mobility shift patterns of single strand conformation polymorphism (SSCP) bands were observed in the fetus and the proband. This molecular approach to prenatal diagnosis appears to be more accurate than the enzymatic method and also more accurate and more rapid than the conventional RFLP method.