Kaur Anupriya, Kumari Anu, Kaur Anit, Sharma Riya, Srivastava Priyanka, Suthar Renu
Genetic Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Clinical Haematology and Medical Oncology, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
J Family Med Prim Care. 2022 Dec;11(12):7870-7874. doi: 10.4103/jfmpc.jfmpc_869_22. Epub 2023 Jan 17.
Spinal muscular atrophy (SMA) is a neuro-muscular disorder caused by biallelic variations in Survival Motor Neuron 1 gene located on chromosome 5q13.2. It is the most common hereditary cause of neonatal death. Ethnicity specific studies are desirable for estimating the prevalence of carrier status of this disease in a population.
To estimate the carrier frequency of SMA among individuals of a reproductive age group in a North Indian cohort.
SMA carrier screening was offered to individuals of a reproductive age group (>18 years) visiting a tertiary care center. Multiplex ligation-dependent probe amplification (MLPA) and quantitative real-time polymerase chain reaction (PCR) were the molecular techniques used to detect the carrier status.
A total of 198 individuals without a family history of SMA were screened in this study. The carrier frequency of heterozygous deletion of gene in our cohort was found to be 1 in 30 (~3/100).
The carrier frequency of SMA is high in our country. The data from the study emphasize the need of a population carrier screening program on SMA in India.
脊髓性肌萎缩症（SMA）是一种神经肌肉疾病，由位于5号染色体q13.2区域的生存运动神经元1基因的双等位基因变异引起。它是新生儿死亡最常见的遗传原因。针对特定种族的研究对于估计该疾病在人群中的携带者状态患病率很有必要。
估计北印度队列中育龄期个体的SMA携带者频率。
为前往三级医疗中心就诊的育龄期（>18岁）个体提供SMA携带者筛查。多重连接依赖探针扩增（MLPA）和定量实时聚合酶链反应（PCR）是用于检测携带者状态的分子技术。
本研究共筛查了198名无SMA家族史的个体。发现我们队列中该基因杂合缺失的携带者频率为30分之一（约3/100）。
我国SMA携带者频率较高。该研究数据强调了在印度开展SMA人群携带者筛查项目的必要性。
