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.)

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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. Summary of Published Southern Blotting Studies Showing the Number of Chromosomes Carrying Each Type of P4SOC21 and C4 genes ~ CD r :s:: ~ CD ;; III :e a.

1990) and is consistent with linkage data that show a negative linkage disequilibrium between CAR and either RLA-B8 or complement type C4AQO, both of which are associated with deletions of C4A and P450c21A. In the C4AQO complotype (sometimes called a "null Chapter 1: 21·Hydroxylase Deficiency 37 allele") electrophoretically detectable C4A protein and activity are absent. , 1988, 1990). , 1990). , 1986); these two markers are found in about one-third to one-half of individuals with nonclassical CAH.

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%).

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