脊髓性肌萎缩症的产前诊断：印度的情况。
Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
作者信息
Kesari Akanchha, Rennert Hanna, Leonard Debra G B, Phadke Shubha R, Mittal Balraj
机构信息
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
出版信息
Prenat Diagn. 2005 Aug;25(8):641-4. doi: 10.1002/pd.1212.
OBJECTIVES
To study the psychosocial issues associated with prenatal diagnosis of SMA in India and the use of SMN1 copy number analysis for carrier detection prior to offering prenatal diagnosis.
METHODS
Homozygous deletion of SMN1 gene was done by PCR-RFLP. Copy number analysis of SMN1 gene was performed by quantitative PCR.
RESULTS
We report our experience of eight cases of prenatal diagnosis for SMA and the use of carrier detection prior to offering prenatal diagnosis. Quantitative PCR results show that SMN1 copy number analysis is useful to identify couples at risk.
CONCLUSION
Case analyses depict unique psychosocial issues associated with prenatal diagnosis of SMA from India.
目的
研究印度脊髓性肌萎缩症（SMA）产前诊断相关的心理社会问题，以及在提供产前诊断之前使用SMN1基因拷贝数分析进行携带者检测。
方法
通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测SMN1基因的纯合缺失。通过定量PCR进行SMN1基因的拷贝数分析。
结果
我们报告了8例SMA产前诊断及在提供产前诊断之前进行携带者检测的经验。定量PCR结果表明，SMN1基因拷贝数分析有助于识别有风险的夫妇。
结论
病例分析描绘了印度SMA产前诊断相关独特的心理社会问题。
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