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Titolo:
CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES
Autore:
CHONG SS; ALMQVIST E; TELENIUS H; LATRAY L; NICHOL K; BOURDELATPARKS B; GOLDBERG YP; HADDAD BR; RICHARDS F; SILLENCE D; GREENBERG CR; IVES E; VANDENENGH G; HUGHES MR; HAYDEN MR;
Indirizzi:
UNIV BRITISH COLUMBIA,DEPT MED GENET,6270 UNIV BLVD VANCOUVER BC V6T 1Z4 CANADA UNIV BRITISH COLUMBIA,DEPT MED GENET VANCOUVER BC V6T 1Z4 CANADA NIH,NATL CTR HUMAN GENOME RES BETHESDA MD 20892 KAROLINSKA INST,DEPT CLIN NEUROSCI,DIV GERIATR MED S-17177 STOCKHOLM SWEDEN KAROLINSKA INST,DEPT MOL MED S-17177 STOCKHOLM SWEDEN UNIV WASHINGTON,DEPT MOL BIOTECHNOL SEATTLE WA 98195 CHILDRENS HOSP,HLTH SCI CTR,SECT GENET & METAB WINNIPEG MB R3A 1S1 CANADA MEM UNIV NEWFOUNDLAND,FAC MED,HLTH SCI CTR,DIV COMMUNITY MED ST JOHNSNF A1B 3V6 CANADA NEW CHILDRENS HOSP,DEPT CLIN GENET PARRAMATTA NSW 2124 AUSTRALIA GEORGETOWN UNIV,MED CTR,INST MOL & HUMAN GENET WASHINGTON DC 20007 GEORGETOWN UNIV,MED CTR,DEPT PEDIAT WASHINGTON DC 20007
Titolo Testata:
Human molecular genetics
fascicolo: 2, volume: 6, anno: 1997,
pagine: 301 - 309
SICI:
0964-6906(1997)6:2<301:CODACS>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
REPEAT INSTABILITY; FLOW-CYTOMETRY; GENE; EXPANSION; MECHANISMS; POLYMORPHISM; CHROMOSOMES; SEX;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
S.S. Chong et al., "CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES", Human molecular genetics, 6(2), 1997, pp. 301-309

Abstract

New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG mutation frequencies for four IAsin families with sporadic HD (IA(NM)) and IAs ascertained from the general population (IA(GP)) by analyzing 1161 single sperm from three persons. We show that IA(NM) are more unstable than IA(GP) with identical size and sequence. Furthermore, comparison of different sized IAs and IAs with different sequences between the CAG and the adjacent CCG tracts indicates that DNA sequence is a major influence on CAG stability. These studies provide estimates of the likelihood of expansion of IA(NM) and IA(GP) to greater than or equal to 36 CAG repeats for these individuals. For an IA with a CAG of 35 in this family with sporadic HD, the likelihood for siblings to inherit a recurrent mutation greater than or equal to 36 CAG is similar to 10%. For IA(GP) Of a similar size, the risk of inheriting an expanded allele of greater than or equal to 36 CAG through the paternal germline is similar to 6%. These risk estimates are higher than previously reported and provide additional information for counselling in these families. Further studies on persons with IAs will be needed to determine whether these results can be generalized to other families.

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Documento generato il 02/04/20 alle ore 12:51:43