title: Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26.
abstract: The thoraco-abdominal syndrome (TAS) presents a closure defect confined to the ventral midline, manifested as ventral hernia of various degrees in all affected individuals and antero-lateral diaphragmatic defect manifested almost exclusively in affected males. The syndrome is inherited as an X-linked dominant trait affecting blastogenesis (XLB mutation). We studied 27 members of the TAS family for linkage on the X chromosome. The best lod score of 5.5 at theta 0.04 was found for the HPRT locus on Xq26.1. A multilocus lod score of 12.4 was observed when the linkage analysis utilized additional markers in Xq25-26.
authors.affiliation: Clinical Genetics Unit, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Parvari
authors.forename: Y
authors.initials: Y
authors.lastname: Weinstein
authors.forename: S
authors.initials: S
authors.lastname: Ehrlich
authors.forename: M
authors.initials: M
authors.lastname: Steinitz
authors.forename: R
authors.initials: R
authors.lastname: Carmi
mesh_terms: D000005:Abdomen / Q000002:abnormalities*; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D014960:X Chromosome