Fine assignment of .BETA.-hexosaminidase A .ALPHA.-subunit on 15q23-q24 by high resolution in situ hybridization.

Takeda, Kaoru; Nakai, Hiroshi; Hagiwara, Hiroaki; Tada, Keiya; Shows, Thomas B.; Byers, Mary G.; Myerowitz, Rachel

doi:10.1620/tjem.160.203

Cited by 10 publications

(4 citation statements)

References 16 publications

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“…2,3 In the absence of the enzyme, its substrate, G M2 ganglioside, accumulates progressively in the neurons of the central nervous cortex leading to the clinical phenotype of the disease. Late-onset TaySachs disease (chronic form) is a rare variant phenotype with appearance of first symptoms during the second or third decade of life.…”

Section: Introductionmentioning

confidence: 99%

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

Rozenberg

Pereira

2001

Sao Paulo Med. J.

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CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

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Section: Introductionmentioning

confidence: 99%

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

Rozenberg

Pereira

2001

Sao Paulo Med. J.

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“…Hex A is a heterodimer with ct and p subunits (Hex apaPb) encoded by genes on chromosome 15q23-q24 and 5q13, respectively [Takeda et al, 1990;Sandhoff et al , 19891. Mutations in the former gene (symbol, HEXA) cause TSD.…”

Section: Introductionmentioning

confidence: 99%

“…Tay-Sachs disease (TSD) is a recessively inherited, neurodegenerative disorder resulting from deficient activity of the lysosomal enzyme P-N-acetylhexosaminidase A (Hex A), which leads to the accumulation of GM2 ganglioside in lysosomes [Sandhoff et al, 19891. Hex A is a heterodimer with ct and p subunits (Hex apaPb) encoded by genes on chromosome 15q23-q24 and 5q13, respectively [Takeda et al, 1990;Sandhoff et al , 19891. Mutations in the former gene (symbol, HEXA) cause TSD. HEXA spans 35 kb and has 14 exons [Proia and Soravia, 19871.…”

Section: Introductionmentioning

confidence: 99%

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay‐sachs disease gene carriers among Ashkenazic Jews

Fernandes

Kaplan

Clow

et al. 1992

Genetic Epidemiology

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Tay-Sachs disease (TSD), a neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme hexosaminidase A (HexA), clusters in Ashkenazic Jews. Population-based screening programs to detect carriers of TSD genes by means of HexA assays have been active since the 1970s. The recent characterization of 3 mutations in the HEXA gene (in exon 7, exon 11, and intron 12), which account for over 90% of HEXA mutations in Ashkenazim, appeared to offer better options for screening and diagnosis. The relative frequencies of the three mutations in Montreal are similar to those reported in four other North American populations. We compared enzyme and DNA analyses to determine specificity and sensitivity of each test when the other was used as the confirmatory procedure. Neither procedure has a sensitivity of 1.0. Maximum sensitivity and specificity were achieved by using both tests together. The findings here are likely to apply to most cases where the variant screened enzyme phenotype can result from more than one mutation.

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“…The HEXA (a-subunit) gene resides on chromosome 15 and contains 1,587 bp of coding sequence in 14 exons dispersed over 35 kb (Takeda et al, 1990;Proia and Soravia, 1987;Myerowitz et al, 1985; Korneluk et al, 1986). At least 50 distinct TSD mutations have been identified so far (Kaback et al, 1993).…”

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confidence: 99%

Donor splice site mutation in intron 5 of theHEXA gene in a Turkish infant with Tay-Sachs disease

et al. 1995

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Fine assignment of .BETA.-hexosaminidase A .ALPHA.-subunit on 15q23-q24 by high resolution in situ hybridization.

Cited by 10 publications

References 16 publications

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay‐sachs disease gene carriers among Ashkenazic Jews

Donor splice site mutation in intron 5 of theHEXA gene in a Turkish infant with Tay-Sachs disease

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