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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Yoshida, A. Takizawa, T. Prchal, J. T. |
| Description | Author Affiliation: Yoshida A ( Department of Biochemical Genetics, Beckman Research Institute of the City of Hope, Duarte, CA 91010.) |
| Abstract | The X chromosome-linked glucose-6-phosphate dehydrogenase (G6PD) A(+) variant is found in approximately 20% of blacks. Examination of the structure of the G6PD A(+) gene revealed that AT----GC transition occurred in the variant gene, resulting in the amino acid substitution Asn----Asp at the one hundred forty-second position from the NH2-terminal of the enzyme (Takizawa and Yoshida 1987). The nucleotide change created an additional FokI cleavage site in the variant A(+) gene; thus, the FokI fragment type of the variant A(+) DNA differs from that of the normal B(+) DNA. PvuII fragment type is also found to be polymorphic in blacks, but not in Caucasians. The majority of blacks, as well all nonblacks, have a major hybridization-positive fragment of approximately 4.0 kbp (PvuII type 1), while approximately 20% of blacks have a major fragment of approximately 1.5 kbp (PvuII type 2). The G6PD gene with PvuII type 2 contains an additional PvuII cleavage site approximately 0.7 kbp downstream from the mutation site of the G6PD A(+). Approximately 40% of the G6PD A(+) genes have PvuII type 2, while only approximately 10% of the G6PD B(+) genes are associated with PvuII type 2. The data indicate a statistically significant (X2 = 6.85, P less than .020) linkage disequilibrium between the G6PD types and the PvuII types at the G6PD locus. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 42 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1988-06-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | African Continental Ancestry Group Genetic Linkage Glucosephosphate Dehydrogenase Genetics Polymorphism, Genetic Polymorphism, Restriction Fragment Length X Chromosome Chromosome Mapping European Continental Ancestry Group Gene Frequency Genetic Markers Nucleic Acid Hybridization Comparative Study Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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