Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment

Journal Article · Fri Jan 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6885838

Zonana, J; Gault, J; Jones, M; Browne, D; Litt, M ^[1]; Davies, K J.P.; Clarke, A; Thomas, N S.T. ^[2]; Brockdorff, N; Rastan, S ^[3]

---

1. Oregon Health Sciences Univ., Portland (United States)
2. Univ. of Wales, Cardiff (United Kingdom)
3. Medical Research Council Clinical Research Centre, Harrow (United Kingdom)

X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven genetic loci within the Xq12-13 region. A single individual was identified with a deletion at the DXS732 locus by hybridization with the mouse genomic probe pcos169E/4. This highly conserved DNA probe is from locus DXCrc169, which is tightly linked to the Ta locus, the putative mouse homologue of EDA. The proband had the classical phenotype of EDA, with no other phenotypic abnormalities, and a normal cytogenetic analysis. A human genomic DNA clone, homologous to pcos169E/4, was isolated from a human X-chromosome cosmid library. On hybridization with the cosmid, the proband was found to be only partially deleted at the DXS732 locus, with a unique junctional fragment identified in the proband and in three of his maternal relatives. This is the first determination of carrier status for EDA in females, by direct mutation analysis. Failure to detect deletion of the other loci tested in the proband suggests that the DXS732 locus is the closest known locus to the EDA gene. Since the DXS732 locus contains a highly conserved sequence, it must be considered to be a candidate locus for the EDA gene itself. 18 refs., 3 figs., 1 tab.

• OSTI ID: 6885838
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DETECTION
DISEASES
DNA HYBRIDIZATION
FEMALES
GENETIC MAPPING
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
HYBRIDIZATION
MALES
MAPPING
MUTATIONS
PHENOTYPE
X CHROMOSOME