| Autor: |
Carritt B; MRC Human Biochemical Genetics Unit, University College London., Blunt T, Avent N, Daniels G, Steers F |
| Jazyk: |
angličtina |
| Zdroj: |
Annals of human genetics [Ann Hum Genet] 1993 Oct; Vol. 57 (4), pp. 273-9. |
| DOI: |
10.1111/j.1469-1809.1993.tb00900.x |
| Abstrakt: |
Alu element-primed PCR was performed on genomic clones containing human RH blood group genes. When used as a probe, the Alu PCR product detected a restriction fragment-length polymorphism which is in complete linkage disequilibrium with the Rh C/c serological polymorphism, irrespective of the Rh D or E serological type it is coupled with. This provides the opportunity to type individuals for their RH C gene directly at the DNA level. RFLP analysis of two individuals with the amorph Rh null phenotype revealed that in one case this phenotype occurred on an RH C background, whereas in the other it was on an RH c background. Taken together these results indicate that the Rh C/c polymorphism has arisen only once, but that the amorph Rh null phenotype, although exceedingly rare, is the result of at least two independent mutations. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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