Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women | Zendy

Karin Weiss | Zendy; Avi OrrUrtreger | Zendy; Idit Kaplan Ber | Zendy; Tova Naiman | Zendy; Ruth Shomrat | Zendy; Eyal Bardugu | Zendy; Yuval Yaron | Zendy; Shay BenShachar | Zendy

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Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

Author(s) -

Karin Weiss,

Avi OrrUrtreger,

Idit Kaplan Ber,

Tova Naiman,

Ruth Shomrat,

Eyal Bardugu,

Yuval Yaron,

Shay BenShachar

Publication year - 2014

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.2014.64

Subject(s) - fragile x syndrome , fmr1 , trinucleotide repeat expansion , allele , genetics , medicine , gene , biology

Fragile X syndrome, a common cause of intellectual disability, is usually caused by CGG trinucleotide expansion in the FMR1 gene. CGG repeat size correlates with expansion risk. Premutation alleles (55-200 repeats) may expand to full mutations in female meiosis. Interspersed AGG repeats decrease allele instability and expansion risk. The carrier rate and stability of FMR1 alleles were evaluated in large cohorts of Ashkenazi and non-Ashkenazi women.

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