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A Locus for a Pedigree with Limb Girdle Muscular Dystrophy

Author: PanGongHua
Tutor: DingMeiPing
School: Zhejiang University
Course: Neurology
Keywords: Limb girdle muscular dystrophy Genome scan Microsatellite markers Linkage analysis
CLC: R746.2
Type: Master's thesis
Year: 2009
Downloads: 8
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Abstract


【Background and Objective】Limb-girdle muscular dystrophy(LGMD) is a group of autosomal-linked hereditary disease which possesses highly heterogeneous clinical and genetic characteristics and mainly presents shoulder girdle and pelvis with muscle weakness and atrophy,according to inheritance pattern,LGMD is divided into two types: autosomal dominant inheritance called LGMD1 and autosomal recessive inheritance called LGMD2.LGMD1 can be divided into seven subtypes A～G,of which 1A～1C disease-causing genes has been maken clearly,but 1D～1G disease-causing genes are not clear.LGMD1D and LGMD1F locate in 7q.We intend to study a family LGMD1D/1F associated chromosomal localization of disease-causing genes through linkage analysis,with genome scanning techniques.【Method】The study uses Cyrillic software to build a pedigree picture to analysis a pedigree,in which consecutive four generation are LGMD in zheJiang.According to clinical manifestations,we make a diagnosis of LGMD1D or LGMDIF,but we can not completely ruled out facioscapulohumeral muscular dystrophy(FSHD).As reported in the literature,we extracted genomic DNA for genome scan and linkage analysis to determine the 5Mb region between D7S2546～D7S427 near LGMD1D and the 3.4Mb region between D7S530～D7S640 near LGMD1F as the primaries interval.And we also tested FSHD loci interval:the D4S171,the D4S426 and the D4S2930.【Results】Pedigree analysis showed that the family comply with autosomal dominant inheritance.However,through genome scan and linkage analysis,the family gene location is neither in he 5Mb region between D7S2546～D7S427 near LGMD1D and the 3.4Mb region between D7S530～D7S640 near LGMD1F as it was reported,nor in the FSHD chromosome interval.【Conclusions】The study demonstrates that the family’s pathogenic gene is not in the locis which have been reported,so we guess there may be a locus within the LGMD1.

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CLC: > Medicine, health > Neurology and psychiatry > Neurology > Neuromuscular disease > Muscular dystrophy
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