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Titolo:
EXAMINATION OF FACTORS ASSOCIATED WITH INSTABILITY OF THE FMR1 CGG REPEAT
Autore:
ASHLEYKOCH AE; ROBINSON H; GLICKSMAN AE; NOLIN SL; SCHWARTZ CE; BROWN WT; TURNER G; SHERMAN SL;
Indirizzi:
EMORY UNIV,SCH MED,DEPT GENET,1462 CLIFTON RD NE ATLANTA GA 30022 EMORY UNIV,SCH MED,DEPT GENET ATLANTA GA 30022 HUNTER GENET NEWCASTLE NSW AUSTRALIA NEW YORK STATE INST BASIC RES DEV DISABIL,DEPT HUMAN GENET STATEN ISLNY 10314 GREENWOOD GENET CTR,JC SELF RES INST HUMAN GENET GREENWOOD SC 29646
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 63, anno: 1998,
pagine: 776 - 785
SICI:
0002-9297(1998)63:3<776:EOFAWI>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X-SYNDROME; PREMATURE OVARIAN FAILURE; FULL MUTATION; MYOTONIC-DYSTROPHY; TRINUCLEOTIDE REPEAT; I LOCUS; GENE; SIZE; EXPANSION; SEQUENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
42
Recensione:
Indirizzi per estratti:
Citazione:
A.E. Ashleykoch et al., "EXAMINATION OF FACTORS ASSOCIATED WITH INSTABILITY OF THE FMR1 CGG REPEAT", American journal of human genetics, 63(3), 1998, pp. 776-785

Abstract

We examined premutation-female transmissions and premutation-male transmissions of the FMR1 CGG repeat to carrier offspring, to identify factors associated with instability of the repeat. First we investigatedassociations between parental and offspring repeat size. Premutation-female repeat size was positively correlated with the risk of having full-mutation offspring, confirming previous reports. Similarly, premutation-male repeat size was positively correlated with the daughter's repeat size. However, increasing paternal repeat size was associated also with both increased risk of contraction and decreased magnitude of the repeat-size change passed to the daughter. We hypothesized that the difference between the female and male transmissions was due simply to selection against full-mutation sperm. To test this hypothesis, we simulated selection against full-mutation eggs, by only examining premutation-female transmissions to their premutation offspring. Among this subset of premutation-female transmissions, associations between maternal and offspring repeat size were similar to those observed in premutation-male transmissions. This suggests that the difference between female and male transmissions may be due to selection against full-mutation sperm. Increasing maternal age was associated with increasing risk of expansion to the full mutation, possibly because of selection for smaller alleles within the offspring's soma over time; a similar effect of increasing paternal age may be due to the same selection process. Last, we have evidence that the reported association between offspring sex and risk of expansion may be due to ascertainment bias. Thus, female and male offspring are equally likely to inherit the full mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 11:20:23