โ Scribed by Carmi, Rivka; Carmi, R.; Weissenbach, J.; Pilia, G.; Mumm, S.; Weinstein, Y.
No coin nor oath required. For personal study only.
We have previously described thoracoabdominal syndrome [TAS;Carmi et al., 19901 and mapped the gene to Xq25-26 [Parvari et al., 19941. After using new polymorphic markers made available since the previous publication, and detecting a reading error of one allele of a CA repeat a t the DXSlO2 locus in one individual in the affected family, we refined the localization of TAS to Xq27, with no recombination observed with DXS1232 and DXS984.
Microsatellite polymorphic loci available for the Xq25-q27 interval were tested on the 27 relatives of the TAS family. Linkage between the TAS locus and marker loci was calculated using ILINK and MLINK from the Linkage program v5.1 [Lathrop et al., 19841. The TAS locus was modeled as an X-linked dominant locus with full penetrance. The pairwise linkage data for the informative markers on Xq25-q27 are presented in Table I. The highest lod scores of 5.49 and 6.36 were obtained for DXS1232 and DXS984, respectively, a t theta = 0. The first neighboring loci showing one cross-over were F9 on the centromeric side and DXS1205 on the telomeric side (the latter showing a different recombination event). The estimated genetic distance between these flanking loci is about 5 cM and the physical distance is 2.5 Mb ( 5 100 Kb) [Little et al., 1991; Zucchi et al., manuscript in preparation]. In addition to the loci presented in Table I the following loci were tested and found to be noninformative: DXS1062, DXS1211, DXS998, DXS1215, DXS1193 [Gyapay et al., 19941, and AFM144yd2 (Genethon). Additional uninformative restriction fragment length polymorphism (RFLP) loci tested included: DXS105 (probe cX55, DNA digested with EcoR I, Taq I, and Hind 111) [Hofker et al., 19851; DXS 152 (probe cX33.2, DNA digested with ApaL I) [Hofker et al., 19851; and DXS 119 (probe 780, DNA digested with Bcl I) [Hofker et al., 19851. The results presented here thus narrow down the region for the search for the TAS gene to an interval of about 2.5 Mb. SOX3, a gene related to SRY and expressed in mouse embry-
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