在巴西家庭中，使用15q探针进行连锁分析后，常染色体隐性成人型肢带型肌营养不良症存在遗传异质性的证据。
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
作者信息
Passos-Bueno M R, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie S K, Carvalho A A
机构信息
Departamento de Biologia, Universidade de São Paulo, Brazil.
出版信息
J Med Genet. 1993 May;30(5):385-7. doi: 10.1136/jmg.30.5.385.
Abstract
The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight out of 11 large Brazilian LGMD families of different racial background (which were informative for the closest available probe to the LGMD2 gene), we confirmed linkage to the LGMD2 gene at 15q in two of these families and exclusion in six others. These data provide the first evidence of genetic heterogeneity for the autosomal recessive limb-girdle muscular dystrophies.
摘要
常染色体隐性遗传性肢带型肌营养不良症（LGMD）是一组具有异质性的疾病，其特征可能为一个或多个常染色体位点。最近发现，来自留尼汪岛孤立岛屿的一组家庭中，15号染色体上的一个基因导致了一种轻度形式的LGMD，现被归类为LGMD2。基于11个不同种族背景的巴西大型LGMD家庭中的8个家庭的结果（这些家庭对LGMD2基因最接近的可用探针具有信息性），我们在其中两个家庭中证实了与15号染色体上LGMD2基因的连锁，并在其他6个家庭中排除了该连锁。这些数据为常染色体隐性遗传性肢带型肌营养不良症的遗传异质性提供了首个证据。
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本文引用的文献
1
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.严重的儿童期肌肉营养不良症，男女均受影响，在突尼斯较为常见。
Muscle Nerve. 1983 Sep;6(7):469-80. doi: 10.1002/mus.880060702.
2
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
3
Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.
Am J Med Genet. 1989 Mar;32(3):407-10. doi: 10.1002/ajmg.1320320328.
4
5
An autosomal transcript in skeletal muscle with homology to dystrophin.
Nature. 1989 May 4;339(6219):55-8. doi: 10.1038/339055a0.
6
Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.对患有常染色体隐性肢带型肌营养不良症（LGMD）的家族以及肌营养不良蛋白相关序列两侧的6q探针进行连锁分析。
Am J Med Genet. 1991 Jan;38(1):140-6. doi: 10.1002/ajmg.1320380130.
7
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C R Acad Sci III. 1991;312(4):141-8.
8
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9
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10
Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991.人类基因定位11。伦敦会议（1991年）。第十一届人类基因定位国际研讨会。英国伦敦，1991年8月18日至22日。
Cytogenet Cell Genet. 1991;58(3-4):986-2156. doi: 10.1159/000133716.
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