NDLI: Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33

Content Provider	Springer Nature Link
Author	John, Peter Ali, Ghazanfar Chishti, Muhammad S. Naqvi, Syed Muhammad S. Leal, Suzanne M. Ahmad, Wasim
Copyright Year	2005
Abstract	Alopecia with mental retardation syndrome is a rare autosomal recessive disorder characterized clinically by total or partial alopecia and mental retardation. In an effort to understand the molecular bases of this form of alopecia syndrome, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remote region in Pakistan. Genome wide scan mapped the disease locus on chromosome 3q26.33–q27.3. A maximum two-point LOD score of 3.05 (θ=0.0) was obtained at marker D3S3583. Maximum multipoint LOD score exceeding 5.0, obtained with several markers, supported the linkage. Recombination events observed in affected individuals localized the disease locus between markers D3S1232 and D3S2436, spanning 11.49-cM region on chromosome 3q26.33–q27.3. Sequence analysis of a candidate gene ETS variant gene 5 from DNA samples of two affected individuals of the family revealed no mutation.
Starting Page	665
Ending Page	667
Page Count	3
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	118
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-11-05
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Internal Medicine Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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