Genetic mapping of X-linked mental retardation genes with short tandem repeat polymorphisms
- H.A. Chapman Inst. Med. Genetics, Tulsa, OK (United States)
A number of loci for non-specific and syndromal forms of mental retardation (XLMR) have been mapped to certain regions of the X chromosome. As a prerequisite for molecular identification of several forms of XLMR, we have conducted linkage studies in five families. In family 1, the affected members have severe MR, microcephaly, foot anomalies and digital arches. The most likely location of the gene is between DXS983 and DXYS1. A maximum lod score of 3.0 was obtained with DXS986. In family 2, affected males with moderate MR, spasticity of the lower limbs, and clasped thumbs (probably have MASA syndrome). The gene maps between DXS297 and F8C with a maximum lod score with DXS52. In three families, genes were localized by recombinants but lod scores >2 were not achieved. Family 3 has affected males with moderate MR, microcephaly, short stature, widening of the nasal tip and brachydactyly. The obligate carrier females are normal. The gene was localized to Xp11.3-q21 between SYN1 and DXS1105. In family 4, the affected males have non-specific MR whereas the obligate carrier females are normal. The most likely location of the gene is Xp11.4-p22.1 between MAO-B amd DXS987. Family 5 has affected males with profound MR, seizures, and limb contractures and two of five carrier females with moderate MR and limb contractures. The gene maps between DXS1003 and DXS992 (Xp11.4-p22).
- OSTI ID:
- 134684
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1421
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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