Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.

Journal of inherited metabolic disease ·Vol. 9 ·No. 1 ·1986-00-00 ·Pages 45-57

Gibbs DA, Headhouse-Benson CM, Watts RW

Abstract

暂无摘要

MeSH Terms

Alleles Cells, Cultured DNA/analysis DNA Restriction Enzymes Female Fibroblasts/enzymology Genes Genetic Linkage Humans Hypoxanthine Phosphoribosyltransferase/genetics Lesch-Nyhan Syndrome/diagnosis,genetics Male Nucleic Acid Hybridization Pedigree Polymorphism, Genetic Pregnancy Prenatal Diagnosis Skin/enzymology

Chemicals

DNA Hypoxanthine Phosphoribosyltransferase DNA Restriction Enzymes

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Gibbs D A

Headhouse-Benson C M

Watts R W

References (11)

11 references, click to expand

The diagnosis of the carrier state for the Lesch--Nyhan syndrome.
Q J Med. 1975 Apr;44(174):189-205 PMID: 1178810
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.
Proc Natl Acad Sci U S A. 1983 Jul;80(13):4035-9 PMID: 6306659
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Nature. 1984 Aug 2-8;310(5976):412-4 PMID: 6087154
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
Proc Natl Acad Sci U S A. 1980 May;77(5):2810-3 PMID: 6930669
Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.
Proc Natl Acad Sci U S A. 1983 Jan;80(2):477-81 PMID: 6300847
Detection of specific sequences among DNA fragments separated by gel electrophoresis.
J Mol Biol. 1975 Nov 5;98(3):503-17 PMID: 1195397
First-trimester diagnosis of Lesch-Nyhan syndrome.
Lancet. 1984 Nov 24;2(8413):1180-3 PMID: 6150236
Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
J Med Genet. 1977 Apr;14(2):100-2 PMID: 856956
Studies on human erythrocyte IMP: pyrophosphate phosphoribosyltransferase.
Eur J Biochem. 1970 Aug;15(2):367-73 PMID: 5502668
Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.
J Inherit Metab Dis. 1981;4(4):203-6 PMID: 6796771
Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations.
Q J Med. 1982;51(201):43-78 PMID: 7111674

Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

10.1007/BF01813902

Published

1986-00-00

Pages

45-57

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

PubMed source DOI: 10.1007/BF01813902 View journal details

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Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.

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