title: First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family.
abstract: 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Orimo
authors.forename: E
authors.initials: E
authors.lastname: Nakajima
authors.forename: Z
authors.initials: Z
authors.lastname: Hayashi
authors.forename: K
authors.initials: K
authors.lastname: Kijima
authors.forename: A
authors.initials: A
authors.lastname: Watanabe
authors.forename: H
authors.initials: H
authors.lastname: Tenjin
authors.forename: T
authors.initials: T
authors.lastname: Araki
authors.forename: T
authors.initials: T
authors.lastname: Shimada
mesh_terms: D000483:Alleles; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D005260:Female; D005838:Genotype; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis* / Q000235:genetics*; D007564:Japan; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy
chemical_list: D015345:Oligonucleotide Probes; D004247:DNA