Identification and Application of Additional Restriction Fragment Length Polymorphisms at the Human Ornithine Transcarbamylase Locus

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1986 Jun 1

PMID 3014867

Citations 9

Authors

J E Fox

A M Hack

W A Fenton

L E ROSENBERG

Affiliations

Soon will be listed here.

Abstract

Two additional restriction fragment length polymorphisms (RFLPs) have been identified at the human ornithine transcarbamylase (OTC) locus. Approximately 11% of women are heterozygous for an RFLP characterized by polymorphic bands at 3.7 and 3.6 kilobasepairs (kbp) observed after DNA digestion with TaqI. Twenty-nine percent of women are heterozygous for an RFLP characterized by polymorphic bands at 18.0 and 5.2 kbp observed after digestion with BamHI. Thus, in combination with the previously reported RFLPs identified using MspI, the X chromosomes in approximately 80% of women at risk for having a son with OTC deficiency are distinguishable by RFLPs at the OTC locus. Furthermore, we show that these RFLPs will be useful in families for prenatal diagnosis of OTC deficiency, carrier detection, and carrier exclusion.

Citing Articles

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

Matsuura T, Hoshide R, Setoyama C, Shimada K, Hase Y, Yanagawa T Hum Genet. 1993; 92(1):49-56.

PMID: 8365726 DOI: 10.1007/BF00216144.

Family studies in ornithine transcarbamylase deficiency.

Svirklys L, Wilcken B, Hammond J, Mackinlay A, OSullivan W Arch Dis Child. 1988; 63(3):297-302.

PMID: 3355210 PMC: 1778759. DOI: 10.1136/adc.63.3.297.

Diagnosis of genetic disease using recombinant DNA. Supplement.

Cooper D, Schmidtke J Hum Genet. 1987; 77(1):66-75.

PMID: 3305309 DOI: 10.1007/BF00284717.

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Maddalena A, Spence J, OBrien W, Nussbaum R J Clin Invest. 1988; 82(4):1353-8.

PMID: 3170748 PMC: 442691. DOI: 10.1172/JCI113738.

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Pelet A, Rotig A, Bonaiti-Pellie C, Rabier D, Cormier V, Toumas E Hum Genet. 1990; 84(2):167-71.

PMID: 2298453 DOI: 10.1007/BF00208934.

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