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Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

โœ Scribed by Anderson, Jennifer L.; Khan, Mehmood; David, William S.; Mahdavi, Zohreh; Nuttall, Frank Q.; Krech, Elizabeth; West, Sandra G.; Vance, Jeffery M.; Pericak-Vance, Margaret A.; Nance, Martha A.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
36 KB
Volume
82
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990115)82:2<161::aid-ajmg12>3.0.co;2-0

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โœฆ Synopsis


Familial lipodystrophy is a genetically heterogeneous set of disorders characterized by a total or partial absence of subcutaneous fat, diabetes mellitus or impaired glucose tolerance, hyperlipidemia, and hypermetabolism [Senior and Gellis, 1964]. One subtype, familial partial lipodystrophy Dunnigan (FPLD), is a rare autosomal dominant trait that results in an gradual loss of subcutaneous fat in the lower trunk and limbs, Type V hyperlipoproteinemia, hypertriglyceridemia, and insulin-resistant diabetes. Previous reports of this condition have been limited to case reports or very small families. Recently, Peters et al. reported on linkage of five families of Western European descent to a 5.3 cM region on chromosome 1q21-22 between the flanking markers D1S305 and D1S1600 [Peters et al., 1998: Nat Genet 18:292-295]. We performed linkage and haplotype analysis using highly polymorphic, microsatellite markers on a large, multigeneration Caucasian kindred of German ancestry. The maximum two-point lod score achieved was 4.96 at max = 0 for marker D1S2721. Multipoint analysis gave an overall maximum lod score of 6.27 near marker D1S2721. The results of the haplotype analysis support the minimal candidate region as reported by Peters et al. Am.


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