[Genetic diagnosis of inborn error of metabolism by microsatellite marker analysis].

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.

• Authors: S Kure
• Journal: Rinsho byori. The Japanese journal of clinical pathology (Rinsho Byori) Vol. 44 Issue 2 Pg. 116-9 (Feb 1996) ISSN: 0047-1860 [Print] Japan
• PMID: 8851192 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Genetic Markers

Topics

• Female
• Fetal Diseases (diagnosis, genetics)
• Genetic Markers
• Humans
• Metabolism, Inborn Errors (diagnosis, genetics)
• Microsatellite Repeats (genetics)
• Polymerase Chain Reaction
• Pregnancy
• Prenatal Diagnosis