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GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

A. Tanaka, K. Ohno, K. Suzuki,

. 1988 ; 156 (2) : 1015-9. [pub] 1988Oct31

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, Research Support, U.S. Gov't, P.H.S.

Perzistentní odkaz   https://www.medvik.cz/link/bmc20020135

Grantová podpora
P30 HD-03110 NICHD NIH HHS - United States
R01 NS-24289 NINDS NIH HHS - United States

A point mutation within exon 5 of beta-hexosaminidase alpha chain gene was identified earlier in a Puerto Rican patient with GM2-gangliosidosis B1 variant (the DN-allele) [K. Ohno and K. Suzuki: J. Neurochem. 50:316-318, 1988]. Oligonucleotide probes designed to detect either the normal or the DN-allele showed that four additional patients carried the same mutation. These patients were of Italian, French, Spanish, and English/Italian/Hungarian origin. Three of them, as well as our original patient, were compound heterozygotes with positive signals for both the mutant and normal probes, while the Spanish patient was positive only for the DN-allele. A patient from Czechoslovakia was negative for the DN-allele. Thus, the specific mutation originally found in the Puerto Rican patient has a surprisingly wide geographic and ethnic distribution. This mutation can account for the B1 variant phenotype in five of the six B1 variant patients so far examined.

Citace poskytuje Crossref.org

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