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Titolo:
Tay-sachs screening in the Jewish Ashkenazi population: DNA testing is thepreferred procedure
Autore:
Bach, G; Tomczak, J; Risch, N; Ekstein, J;
Indirizzi:
Hadassah Univ Hosp, Dept Human Genet, IL-91120 Jerusalem, Israel Hadassah Univ Hosp Jerusalem Israel IL-91120 IL-91120 Jerusalem, Israel Thomas Jefferson Univ, Jefferson Med Coll, Div Med Genet, Philadelphia, PA19107 USA Thomas Jefferson Univ Philadelphia PA USA 19107 Philadelphia, PA19107 USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA Stanford Univ Stanford CA USA niv, Sch Med, Dept Genet, Stanford, CA USA Dor Yeshorim, Comm Prevent Jewish Dis, Jerusalem, Israel Dor Yeshorim Jerusalem Israel omm Prevent Jewish Dis, Jerusalem, Israel
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 99, anno: 2001,
pagine: 70 - 75
SICI:
0148-7299(20010215)99:1<70:TSITJA>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-HEXOSAMINIDASE; ALPHA-CHAIN; DISEASE; CARRIERS; JEWS; GENE; COMMUNITY; FREQUENCY; MUTATIONS;
Keywords:
Tay-Sachs disease; Ashkenazi Jews; population screening; DNA testing; hexosaminidase A;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Bach, G Hadassah Univ Hosp, Dept Human Genet, IL-91120 Jerusalem, Israel Hadassah Univ Hosp Jerusalem Israel IL-91120 0 Jerusalem, Israel
Citazione:
G. Bach et al., "Tay-sachs screening in the Jewish Ashkenazi population: DNA testing is thepreferred procedure", AM J MED G, 99(1), 2001, pp. 70-75

Abstract

A unique screening program for the identification of Tay-Sachs Disease (TSD) heterozygotes has been performed in the traditional Orthodox Ashkenazi Jewish (AJ) community since 1983. In recent years the program has utilized the biochemical assay for the determination of hexosaminidase A levels by the heat inactivation technique as well as by direct DNA analysis. The three mutations which were analyzed were those that have been shown to be prevalent among AJ TSD patients and carriers, namely the four nucleotide insertionmutation in exon 11 (1278+TATC), the splice mutation at the 5' end of intron 12 (1421+1g-->c), and the adult mutation, a Gly(269)-->Ser substitution in exon 5 (G269S). A total of 103,133 individuals were tested by biochemical analysis, and 38,197 of them were also assayed by DNA testing. Furthermore, 151 chromosomes from TSD patients or obligate heterozygotes were subjected to DNA analysis for one of the three mutations. DNA testing of the latter identified one of the three AJ mutations in every case, predicting a veryhigh detection rate of heterozygotes in this community by this method. By contrast, the sensitivity of the enzyme assay ranged from 93.1% to 99.1% depending on the exclusion (inclusion) of inconclusive results as positive, while the specificity ranged from 88.1% to 98.8% depending on the inclusion (exclusion) of inconclusive results as positive. Our results strongly support the use of DNA testing alone as the most cost-effective and efficient approach to carrier screening for TSD in individuals of confirmed Ashkenazi Jewish ancestry. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 21/09/20 alle ore 16:02:38