Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR
Autore:
Weinhausel, A; Haas, OA;
Indirizzi:
St Anna Childrens Hosp, Childrens Canc Res Inst, A-1090 Vienna, Austria StAnna Childrens Hosp Vienna Austria A-1090 nst, A-1090 Vienna, Austria St Anna Childrens Hosp, Ludwig Boltzmann Inst Cytogenet Diag, A-1090 Vienna, Austria St Anna Childrens Hosp Vienna Austria A-1090 iag, A-1090 Vienna, Austria
Titolo Testata:
HUMAN GENETICS
fascicolo: 6, volume: 108, anno: 2001,
pagine: 450 - 458
SICI:
0340-6717(200106)108:6<450:EOTFX(>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
FMR1 GENE; DNA METHYLATION; FULL MUTATION; CHROMOSOME INACTIVATION; PRENATAL-DIAGNOSIS; NONRADIOACTIVE PCR; MENTAL-RETARDATION; BLOOD SPOTS; CGG REPEAT; MALES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Haas, OA St Anna Childrens Hosp, Childrens Canc Res Inst, Kinderspitalgasse 6, A-1090 Vienna, Austria St Anna Childrens Hosp Kinderspitalgasse 6 Vienna Austria A-1090
Citazione:
A. Weinhausel e O.A. Haas, "Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR", HUM GENET, 108(6), 2001, pp. 450-458

Abstract

The fragile X (FRAXA) syndrome is the most common form of inherited mentalretardation in males. Its peculiar pattern of inheritance results from theparent of origin-specific expansion of a CGG-repeat within the FMR I gene on the X chromosome. In patients, gene function is abolished by hypermethylation of the promoter and the massively expanded repeat. We have developed a methylation-sensitive polymerase chain reaction (MS-PCR) strategy that combines repeat-length and methylation analysis of the CGG-repeat and the promoters of the FMR1 and XIST genes. The allelic methylation of the latter opposes that of the FMR promoter and serves as an internal control and standard for semiquantitative analyses. This system enables the delineation of I I distinct patterns encountered in nonaffected. carrier. and affected malesand females. We have evaluated our system on well-defined samples with different FMR1 mutations and have used it for the diagnostic evaluation of 253male and 80 female probands. In the male group, we have identified five full mutations, and three gray-zone and premutation alleles with 54, 55, and 62 repeats, respectively. The female group consists of 33 normal homozygoteand 41 heterozygote individuals, two of whom harbor a gray-zone allele with 47 repeats, none with a premutation, and six with a full mutation. Our MS-PCR approach allows the currently most comprehensive diagnostic evaluationof the FRAXA syndrome in a cost- and time-efficient fashion. In addition, it is a valuable tool for the analysis of clonality and skewing phenomena in females.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 17:38:11