LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE
LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE
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DOI：
10.1007/bf00212028
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发表时间：
1994-03-01
期刊：
影响因子：
5.3
通讯作者：
MENDELL, JR
中科院分区：
文献类型：
--
作者：
BURGHES, AHM;INGRAHAM, SE;MENDELL, JR
脊髓性肌萎缩症(SMA)是一种常见的常染色体隐性遗传病，导致运动神经元丢失。我们使用与SMA基因紧密连锁的9个标记对一组家系进行了连锁分析。标记D5S351的Lod得分最高(不包括两个非连锁家系，在theta=0时，Z(Max)=10.04；在theta=0.007，包括所有家系，Z(Max)=8.77.1个III型家系与5q13标记没有连锁，在1个I型血缘家系中，除标记D5S435外，其他家系个体均未表现出纯合子。用最近的着丝粒标记D5S435鉴定了三个重组子，该标记定位了该标记的基因端粒。这些重组体将有助于更精细地定位SMA基因的位置。最后，两个家系提供了强有力的证据，证明SMA表型的表现有显著的差异，其中一个家系的发病年龄从17个月到13岁不等。
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Z(max) = 10.04 at theta = 0 excluding two unlinked families, and Z(max) = 8.77 at theta = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closest centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.