Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers | Zendy

Sarah L. Nolin | Zendy; Anne Glicksman | Zendy; Nicole Ersalesi | Zendy; Carl Dobkin | Zendy; W. Ted Brown | Zendy; Ru Cao | Zendy; Eliot B. Blatt | Zendy; Sachin Sah | Zendy; Gary J. Latham | Zendy; Andrew G. Hadd | Zendy

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Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

Author(s) -

Sarah L. Nolin,

Anne Glicksman,

Nicole Ersalesi,

Carl Dobkin,

W. Ted Brown,

Ru Cao,

Eliot B. Blatt,

Sachin Sah,

Gary J. Latham,

Andrew G. Hadd

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.2014.106

Subject(s) - allele , genetics , fmr1 , mutation , fragile x syndrome , biology , polymerase chain reaction , fragile x , microsatellite , gene

Fragile X CGG repeat alleles often contain one or more AGG interruptions that influence allele stability and risk of a full mutation transmission from parent to child. We have examined transmissions of maternal and paternal alleles with 45-90 repeats to quantify the effect of AGG interruptions on fragile X repeat instability.

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