Genetic diagnosis of inborn error of metabolism by microsatellite marker analysis

Research output: Contribution to journalReview articlepeer-review

Abstract

We discussed here the usefulness of the microsatellite marker analysis in the prenatal diagnosis of inborn errors of metabolism. Since most inborn errors of metabolism are not common disorders, it is hard to find a common mutation highly useful for the DNA diagnosis. It would be, therefore, more advantageous to diagnose a fetus at risk by analyzing the affected family with multiple highly-polymorphic markers such as the CA repeats. To establish the diagnosis system by the polymorphic markers, it would be a great help to use a human linkage map which contains an increasing number of CA repeat markers.

Original languageEnglish
Pages (from-to)116-119
Number of pages4
JournalRinsho byori. The Japanese journal of clinical pathology
Volume44
Issue number2
Publication statusPublished - 1996 Feb

ASJC Scopus subject areas

  • Medicine(all)

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