A GENE FOR ULNAR-MAMMARY SYNDROME MAPS TO 12Q23-Q24.1

Citation
M. Bamshad et al., A GENE FOR ULNAR-MAMMARY SYNDROME MAPS TO 12Q23-Q24.1, Human molecular genetics, 4(10), 1995, pp. 1973-1977
Citations number
33
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
4
Issue
10
Year of publication
1995
Pages
1973 - 1977
Database
ISI
SICI code
0964-6906(1995)4:10<1973:AGFUSM>2.0.ZU;2-B
Abstract
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder charact erized by posterior limb deficiencies or duplications, apocrine/mammar y gland hypoplasia and/or dysfunction, abnormal dentition, delayed pub erty and genital anomalies, We report the mapping of a gene causing UM S to chromosome 12q23-24.1. Linkage analysis generated a positive led score of 6.21 at theta = 0.00 with the marker D12S79, and recombinants bracket the UMS gene to a 21 cM region. This region contains a locus for Holt-Oram syndrome (HOS) suggesting that the genes for UMS and HOS may be allelic or closely linked. The identification of the gene caus ing UMS will be an important step toward understanding the molecular m echanisms that control limb and apocrine gland development.