A NOVEL CDNA DETECTS HOMOZYGOUS MICRODELETIONS IN GREATER-THAN 50-PERCENT OF TYPE-I SPINAL MUSCULAR-ATROPHY PATIENTS

被引：84
作者：
THOMPSON, TG
DIDONATO, CJ
SIMARD, LR
INGRAHAM, SE
BURGHES, AHM
CRAWFORD, TO
ROCHETTE, C
MENDELL, JR
WASMUTH, JJ
机构：
[1] UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717
[2] OHIO STATE UNIV,DEPT MOLEC GENET,COLUMBUS,OH 43210
[3] OHIO STATE UNIV,DEPT NEUROL,COLUMBUS,OH 43210
[4] OHIO STATE UNIV,DEPT BIOCHEM MED,COLUMBUS,OH 43210
[5] HOP ST JUSTINE,MONTREAL,PQ H3T 1C5,CANADA
[6] JOHNS HOPKINS UNIV,SCH MED,DEPT NEUROL,BALTIMORE,MD 21205
来源：
NATURE GENETICS | 1995年 / 9卷 / 01期
关键词：
D O I：
10.1038/ng0195-56
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease in Caucasians (after cystic fibrosis). Childhood SMAs are divided into three groups (type I, II and III), which are allelic variants of the same locus in a region of similar to 850 kb in chromosome 5q12-q13, containing multiple copies of a novel, chromosome 5-specific repeat as well as many atypical pseudogenes. This has hampered the identification of candidate genes. We have identified several coding sequences unique to the SMA region. A genomic fragment detected by one cDNA is homozygously deleted in 17/29 (58%) of type I SMA patients. Of 235 unaffected individuals examined, only two showed the deletion and both are carriers of SMA. Our results suggest that deletion of at least part of this novel gene is directly related to the phenotype of SMA.
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页码：56 / 62
页数：7
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