New PDF release: Advances in Human Genetics

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

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If these results are combined, there are 168 deletions (19%) and 70 large gene conversions (8OJo) among 871 chromosomes. This is the same frequency that we found in our earlier compilation of 454 chromosomes 40 Yves Morel and Walter L. Miller (Miller and Morel, 1989). , 1989a). , 1990). About half of these deletions are associated with HLA-Bw47. Thus, about 25% of patients have a nonfunctional hybrid P450c21A/B gene detectable by Southern blotting studies instead of a functional P450c21B gene, irrespective of whether the genetic cause is gene conversion or gene deletion.

1988). , 1988). Nonclassical CAH is clearly much more common, but these data are also variable. , 1990). These data would indicate that Y3 of Ashkenazi Jews, Y4 of Hispanics, Y5 of Yugoslavs, Y9 of Italians, and h4 of other Caucasians are heterozygotes. , 1985). The considerable differences in the reported incidences reflect differences in the small populations examined and errors in distinguishing individuals with nonclassical CAH fromheterozygotes for classical CAH by hormonal criteria. This error can be circumvented by careful measurement of 170HP before and after stimulation with ACTH (Fig.

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). 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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