摘要
目的分析并确定8例异染性脑白质营养不良(metachromatic leukodystrophy,MLD)患者的芳基硫酸酯酶A(arylsulftase A,ARSA)基因突变及遗传特征。方法收集并分析8例MLD患者及其家系成员临床资料,采用DNA直接测序方法进行ARSA突变检测,确定基因突变位点,明确基因诊断。结果例1-3发现ARSA基因纯合突变c.954G>A;例4复合杂合突变c.887G>T/c.911C>T;例5复合杂合突变c.862C>T/c.1338dupC;例6仅发现1种突变c.179180dupCA;例7与例8复合杂合突变c.251G>A/c.296G>T。结论明确了8例MLD患者的基因诊断,并发现4个国际上未见报道的AR-SA基新突变。
Objective To identify arylsulftase A（ARSA）gene mutations in 8 patients with metaehromatic leukodystrophy（MLD）. Methods Genomic DNA samples were extracted from peripheral bloods of the patients and all their family members. All 8 exons and exon-intron boundaries of ARSA gene were amplified by polymerase chain reaction（PCR）and followed by direct DNA sequencing. Results There was one homozygous mutation c. 954G〉 A in patients 1 - 3. The compound heterozygous mutations c. 887G T/c. 911C〉 T and c. 862C〉 T/c. 1338dupC were found in patients 4 and 5, respectively. There was only one heterozygous mutation c. 179180dupCA in patient 6. Two heterozygous mutations of ARSA, namely, G251A（R84Q） and G295T（G99V） were identified in patients 7 and 8 who were siblings. Conclusion There are 8 mutations of ARSA gene found in 8 patients with MLD,of which,4 are known mutations and 4 are not reported around world yet.
出处
《山西医科大学学报》
CAS
2008年第8期697-700,共4页
Journal of Shanxi Medical University
基金
"十一五"国家科技计划基金资助项目子课题(2006BAI05A07)
