Genetic mapping of X-linked mental retardation genes with short tandem repeat polymorphisms

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134684

Carpenter, N J; Pritchard, J K ^[1]

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1. 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--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CONGENITAL MALFORMATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MENTAL DISORDERS
NERVOUS SYSTEM DISEASES
PATIENTS
PHENOTYPE
STATISTICS