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

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

From stories of prior volumes:`. . . super beneficial . . . completely recommended.
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Thus, deletions of J ospe et af. (1987) Matteson et af. (1987) Morel et af. (1989a, 1990) 6 4 2 15 10 53 15 8 24 23 15 5 15 SW + SV SW SV NC SW + SV SW SV NC SW SW SW SV NC Collier et at. (1989) Haglund-Stengler (1990) Harada et at. (1987) Higashi et af. (1988a) Alone PhenotypeQ Study 1 0 0 0 2 2 0 0 5 1 0 1 With deleted C4 and P4SOc21A 0 2 0 1 0 2 3 3 4 0 1 2 With duplicated C4 and P45Oc21A Point mutations 0 0 3 2 11 2 0 7 6 3 3 1 3 Gene conversion 19 10 2 0 0 0 0 0 9 1 12 1 0 30-kb deletion 5 6 4 2 3 Othersb TABLE I.

11). The other two chromosomes had confusing, complex patterns of bands that did not yield a diagnosis. , 1987) and may arise from compound heterozygosity of uncharacterized gene rearrangements. Among these 116 affected chromosomes, 88 (76010) had grossly intact P450c2lB genes, implying they carried point mutations. As discussed below in the section on Point Mutations in CAH, such genes almost invariably carry gene microconversions, resulting in the equivalent of point mutations. In this study chromosomes bearing gene deletions and chromosomes bearing gene conversions were equally abundant, 13 each (11%).

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.

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