Advances in Human Genetics by Yves Morel, Walter L. Miller (auth.), Harry Harris, Kurt PDF

By Yves Morel, Walter L. Miller (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 1468459589

ISBN-13: 9781468459586

ISBN-10: 1468459600

ISBN-13: 9781468459609

From experiences of past volumes:`. . . tremendous invaluable . . . completely recommended.
Annals of Human Genetics

`The writer and authors are to be congratulated on bringing a lot biochemical fabric in terms of human affliction jointly so successfully on an annual basis.'
Journal of utilized Biochemistry

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4-kb fragments. All three of these chromosomes yield a normal phenotype unassociated with disease. 4 kb - . 5 c · · · · ·......... J 3 72 . 5 Fig. 13. Application of the probing technique shown in Fig. 12 in a classic family study. The father carries mutant chromosome a, bearing a point mutation (microconversion) in the P450c21B gene (vertical lines); the mother carries mutant chromosome d bearing a 30-kb deletion extending from the middle of the P450c21A pseudogene to the middle of the P450c21B gene.

It has not been formally proven that the P450c21A pseudogene is not transcribed, and it does not have obvious lesions in its 5' flanking DNA that would necessarily prevent transcription. , 1988b). Thus, only the P450c21B gene encodes 21-hydroxylase. , 1990). Similarly, Northern blots show only a single 2-kb species of mRNA. , 1987). , 1981; Miller and Eberhardt, 1983). , 1988) are also duplicated and linked to leukocyte antigen loci. , 1986), and both genes appear to function in cattle (Miller, 1988b).

1988) are also duplicated and linked to leukocyte antigen loci. , 1986), and both genes appear to function in cattle (Miller, 1988b). Thus, the duplication of the C4/P450c21 locus appears to predate mammalian speciation, but the inactivation of the human P450c21A gene postdates this speciation that occurred about 85 million years ago. , 1990) have single P450c21 genes. C4 Genes The tandemly duplicated C4A and C4B loci are both functional, and their encoded serum proteins can be distinguished functionally and immunologically: C4A has a higher binding efficiency than C4B, while C4B has greater hemolytic activity.

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Advances in Human Genetics by Yves Morel, Walter L. Miller (auth.), Harry Harris, Kurt Hirschhorn (eds.)


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