FIRST-TRIMESTER PRENATAL MOLECULAR DIAGNOSIS OF INFANTILE HYPOPHOSPHATASIA IN A JAPANESE FAMILY
- 1 June 1996
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 16 (6) , 559-563
- https://doi.org/10.1002/(sici)1097-0223(199606)16:6<559::aid-pd897>3.0.co;2-a
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.Keywords
This publication has 12 references indexed in Scilit:
- Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasiaHuman Molecular Genetics, 1994
- A Homoallelic Gly317 → Asp Mutation in ALPL Causes the Perinatal (Lethal) Form of Hypophosphatasia in Canadian MennonitesGenomics, 1993
- Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.Proceedings of the National Academy of Sciences, 1992
- First‐trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samplesPrenatal Diagnosis, 1991
- First‐trimester prenatal diagnosis of hypophosphatasia: Experience with 16 casesPrenatal Diagnosis, 1991
- Prenatal diagnosis of infantile hypophosphatasiaPrenatal Diagnosis, 1991
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989
- A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.Proceedings of the National Academy of Sciences, 1988
- Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1–p34Genomics, 1988
- FIRST TRIMESTER DIAGNOSIS OF HYPOPHOSPHATASIA WITH A MONOCLONAL ANTIBODY TO THE LIVER/BONE/KIDNEY ISOENZYME OF ALKALINE PHOSPHATASEThe Lancet, 1985