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Titolo:
FMR1 CCG-repeat instability by single sperm and lymphocytes of fragile-X premutation males
Autore:
Nolin, SL; Houck, GE; Gargano, AD; Blumstein, H; Dobkin, CS; Brown, WT;
Indirizzi:
New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil Staten Isl NY USA 10314 314 USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 65, anno: 1999,
pagine: 680 - 688
SICI:
0002-9297(199909)65:3<680:FCIBSS>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL MYOTONIC-DYSTROPHY; POLYMERASE CHAIN-REACTION; CGG REPEAT; TRINUCLEOTIDE REPEAT; LENGTH VARIATION; HUMAN MINISATELLITES; MUTATION FREQUENCY; TRANSGENIC MICE; FULL MUTATION; CTG REPEATS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
52
Recensione:
Indirizzi per estratti:
Indirizzo: Nolin, SL New York State Inst Basic Res Dev Disabil, Dept Human Genet, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil 1050 Forest Hill Rd Staten Isl NY USA 10314
Citazione:
S.L. Nolin et al., "FMR1 CCG-repeat instability by single sperm and lymphocytes of fragile-X premutation males", AM J HU GEN, 65(3), 1999, pp. 680-688

Abstract

To determine the meiotic instability of the CGG-triplet repeat in the fragile-X gene, FMR1, we examined the size of the repeat in single sperm from four premutation males. The males had CGG-repeat sizes of 68, 75, 78, and 100, as determined in peripheral blood samples. All samples showed a broad range of variations, with expansions more common than contractions. Examination of single lymphocytes indicated that somatic cells were relatively more stable than sperm. Surprisingly, the repeats in sperm from the 75- and 78-repeat males had very different size ranges and distribution patterns despite the similarity of the repeat size and AGG interruption in their somatic cells. These results suggest that cis or trans factors may have a role in male germline repeat instability.

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Documento generato il 28/05/20 alle ore 21:51:46