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Article

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2014

Luo Minjie, Liu Liu, Peter Inga, Zhu Jun, Scott Stuart A, Zhao Geping, Eversley Chevonne, Kornreich Ruth, Desnick Robert J, Edelmann Lisa

Abstract excerpt

PURPOSE: Spinal muscular atrophy is a common autosomal-recessive disorder caused by mutations of the SMN1 gene. Spinal muscular atrophy carrier screening uses dosage-sensitive methods that determine SMN1 copy number, and the frequency of carriers varies by ethnicity, with detection rates ranging from 71 to 94% due to the inability to identify silent (2 + 0) carriers with two copies of SMN1 on one chromosome 5 and...

Read the complete abstract on PubMed

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Share to Gene Duplication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Microsatellite Repeats

Share to Muscular Atrophy, Spinal

Share to Sequence Analysis, DNA

Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 23788250
DOI: 10.1038/gim.2013.84

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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