APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA

Authors
SEGUES B ROZET JM GILBERT B SAUGIERVEBER P RABIER D SAUDUBRAY JM CARRE M ROULEAU FP MENGET A BONARDI JM LYONNET S BONNEFONT JP MUNNICH A
Citation
B. Segues et al., APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Prenatal diagnosis, 15(8), 1995, pp. 757-761
Citations number
9
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
15
Issue
8
Year of publication
1995
Pages
757 - 761
Database
ISI
SICI code
0197-3851(1995)15:8<757:ASONAA>2.0.ZU;2-8
Abstract
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Here, we show that appare nt segregation of null alleles at the OTC locus and flanking polymorph ic loci mimicked false maternity or false paternity in three affected families. Based on these observations, we suggest giving consideration to gene deletion when dealing with segregation of null alleles in OTC deficiency.