Glotov A S, Kiselev A V, Ivashchenko T E, Baranov V S
Ott Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, 199034 Russia.
Genetika. 2001 Aug;37(8):1156-9.
Polymerase chain reaction with subsequent SSCP (single-strand DNA conformational polymorphism) and restriction (BselI restriction endonuclease) analyses were used to type the DNA samples of affected individuals and their relatives from 23 Russian families with high risk of spinal muscular atrophy (SMA) residing in the northwestern region of Russia. Deletions of exon 7 of the SMN gene were found in 96% of the individuals examined. The frequency of homozygous deletion of exons 7 and 8 of the SMN1 gene was 65%. The frequency of homozygous isolated deletion of the SMN1 gene exon 7 among the SMA patients was 4.3%. Homozygous deletion of exon 5 of the NAIP gene was found in 22% of SMA patients. In SMA patients, a total of seven deletion types involving the SMN1, NAIP, and SMN2 genes were detected. Deletion of exons 7 and 8 of the SMN1 gene was the most common mutation associated with SMA in patients from the northwestern Russia.
采用聚合酶链反应，随后进行单链构象多态性（SSCP）和限制性（BselI限制性内切酶）分析，对来自俄罗斯西北部23个患有脊髓性肌萎缩症（SMA）高风险家庭的患者及其亲属的DNA样本进行分型。在所检测的个体中，96%发现SMN基因第7外显子缺失。SMN1基因第7和8外显子纯合缺失的频率为65%。SMA患者中SMN1基因第7外显子纯合孤立缺失的频率为4.3%。22%的SMA患者发现NAIP基因第5外显子纯合缺失。在SMA患者中，共检测到涉及SMN1、NAIP和SMN2基因的7种缺失类型。SMN1基因第7和8外显子缺失是俄罗斯西北部患者中与SMA相关的最常见突变。
