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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:`. . . super priceless . . . completely recommended.
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7-kb Taq I fragment, do not represent deletions, because such chromosomes have 11O-kb Bss HII fragments. All deletions of P450c21 genes were 30 kb long, as the resulting Bss HII fragments from such chromosomes were 80 kb, irrespective of which type of deletion was studied. To determine precisely which 30-kb deletion has occurred, supplementary conventional Southern blotting analysis is needed. Similarly, chromosomes bearing duplications of the P45Oc21A pseudogene have an extra 20 kb of DNA evidenced by a I I • ~ ~ 9 ABNORMALITIES of the P45Oc21B GENE detectable by Southern blotting OTHER DELETIONS 30 kb DELETION [ GENE CONVERSION with other abnormalities ]~.

Asw, Salt-wasting; SV, simple virilizing; Owerback et al. (1990) Partanen et al. (1989b) Rumsby et al. (1986) Schneider et al. (1986) Werkmeister et al. (1986), White et al. (1988) Mornet et al. 2. CD III '< >< iii' i3 a. '< I\) ..... :l:: "CD... I» =r 36 Yves Morel and Walter L. 4 kb - ... 7kb - C4B '-HH1HiiHIlI- .. U 3 72 . U .... _ . 5 Fig. 16. Unusual patient homozygous for C4A and P4S0c21A deletions. Southern blots of Taq I-digested DNA were probed as in Figs. 12-1S. 4-kb C4B fragment and carrying a point mutation in the P4S0c21B gene.

10). 7 -kb Taq I fragment). 6 kb upstream from the initiation codons of the two P450c21 genes to 6-7 kb downstream from the polyadenylation sites. This latter Bg/ II site yields a 12-kb fragment for the P450c21A pseudogene and an l1-kb fragment for the P450c21B gene (Fig. 10). ,«I~~ «I a:l ..... 5 6 a:l t P450c21B 8 10 12 Fig. 10. Map of the P450c21A and B genes. 5' is to the left and 3' is to the right. The P450c21A pseudogene (in black) lies on a 12-kb Bgt II fragment (upper diagram), while the functional P450c21B gene (in black) lies on an ll-kb Bgt II fragment (lower diagram).

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


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