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Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26

✍ Scribed by Parvari, R. ;Weinstein, Y. ;Ehrlich, S. ;Steinitz, M. ;Carmi, R.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 395 KB
Volume: 49
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320490416

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✦ Synopsis

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 8 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.

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