脊髓性肌萎缩症的基因诊断及其应用研究
[Gene diagnosis for spinal muscular atrophy and its application study].
作者信息
Cao Dong-hua, Ren Mei-hong, Lin Chang-kun, Cui Wan-ting, Ma Hong-wei, Wu Ying-yu, Jin Chun-lian
机构信息
Department of Medical Genetics, China Medical University, and The Second Affiliated Hospital, Shenyang, Liaoning, 110001 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):306-9. doi: 10.3760/cma.j.issn.1003-9406.2009.03.015.
OBJECTIVE
To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).
METHODS
Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.
RESULTS
Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.
CONCLUSION
PCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.
目的
建立一种有效的脊髓性肌萎缩症（SMA）基因诊断、携带者检测及产前诊断检测系统。
方法
对26例SMA患者直接采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测SMN1基因第7外显子缺失情况。采用多重聚合酶链反应-变性高效液相色谱法（multi-PCR-DHPLC）进行携带者检测。对生育过患病儿童的孕妇在妊娠中期采集羊水。
结果
26例患者中有25例被诊断为存在SMN1基因缺失。发现其父母中有52例为第7外显子缺失携带者。20例胎儿中有8例经PCR-RFLP诊断为存在SMN1基因缺失。
结论
PCR-RFLP和multi-PCR-DHPLC技术可为第7外显子缺失检测及携带者检测提供快速诊断。PCR-RFLP也可用于SMN1基因第7外显子缺失的产前基因诊断。
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