Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India.
cross_sectional · Level IV
Where this comes from
- Record sourced from PubMed, PMID 36994015.
- Also identified by DOI 10.4103/jfmpc.jfmpc_869_22 and PMC identifier 10041038.
- Licence recorded as CC BY-NC-SA.
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Abstract
Spinal muscular atrophy (SMA) is a neuro-muscular disorder caused by biallelic variations in Survival Motor Neuron 1 gene <i>(SMN1)</i> 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 <i>SMN1</i> 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.