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

Minjie Luo | Zendy; Liu Liu | Zendy; Inga Peter | Zendy; Jun Zhu | Zendy; Stuart A. Scott | Zendy; Geping Zhao | Zendy; Chevonne D. Eversley | Zendy; Ruth Kornreich | Zendy; Robert J. Desnick | Zendy; Lisa Edelmann | Zendy

Open Access

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

Author(s) -

Minjie Luo,

Liu Liu,

Inga Peter,

Jun Zhu,

Stuart A. Scott,

Geping Zhao,

Chevonne D. Eversley,

Ruth Kornreich,

Robert J. Desnick,

Lisa Edelmann

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.84

Subject(s) - smn1 , haplotype , genetics , spinal muscular atrophy , allele , biology , gene duplication , carrier testing , multiplex ligation dependent probe amplification , founder effect , population , copy number variation , prenatal diagnosis , gene , medicine , exon , genome , pregnancy , fetus , environmental health

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 deletion on the other. We hypothesized that identification of deletion and/or duplication founder alleles might provide an approach to identify silent carriers in various ethnic groups.

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