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PMID: 8230164 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Journal of medical genetics ·Vol. 30 ·No. 10 ·1993-10-00 ·Pages 866-9

Kozák L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G

Abstract

Linkage analysis of a non-specific form of X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire X chromosome in a three generation Italian family, including four male patients with moderate mental retardation. One obligate carrier woman had mild mental retardation and another two had normal intelligence. The results indicate tight linkage to DNA markers DXS84 (L754), DXS164 (pERT87-15), and DXS278 (CRI-S232). A maximum lod score of 2.11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised.

MeSH Terms
Adolescent Adult Blotting, Southern Chromosome Mapping Female Genetic Linkage Genetic Markers Humans Intellectual Disability/genetics Male Pedigree Sex Chromosome Aberrations X Chromosome
Chemicals
Genetic Markers
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Kozák L
Istituto di Genetica Medica, Facoltà di Medicina A Gemelli, Università Cattolica del S Cuore, Roma, Italy.
Chiurazzi P
Genuardi M
Pomponi M G
Zollino M
Neri G
References (10)
10 references, click to expand
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.30.10.866
Published
1993-10-00
Pages
866-9
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1016571
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.30.10.866 PMC Full Text View journal details
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