✦ LIBER ✦

FIRST-TRIMESTER PRENATAL MOLECULAR DIAGNOSIS OF INFANTILE HYPOPHOSPHATASIA IN A JAPANESE FAMILY

✍ Scribed by HIDEO ORIMO; EIITSU NAKAJIMA; ZUISEI HAYASHI; KAZUHIRO KIJIMA; ATSUSHI WATANABE; HISAKO TENJIN; TSUTOMU ARAKI; TAKASHI SHIMADA

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 530 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199606)16:6<559::aid-pd897>3.0.co;2-a

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✦ Synopsis

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.

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