Advances in Human Genetics 1 by James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris,

By James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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Gosden, C. , Morsman, J. , and Rodeck, C. , 1984, Rapid fetal sex determination in first trimester prenatal diagnosis by dot hybridisation of DNA probes, Lancet 1:540-541. Grabowski, G. , Kruse, J. , Goldberg, J. , Gordon, R. , Blakemore, K. , Mahoney, M. , and Desnick, R. , 1984, First trimester prenatal diagnosis of Tay-Sachs disease, Am. 1. Hum Genet. 36:1369-1378. Grebner, E. , Wapner, R. , Barr, M. , and Jackson, L. , 1983, Prenatal TaySachs diagnosis by chorionic villi sampling, Lancet 2:286-287.

The list of disorders diagnosable by DNA analysis is rapidly growing and all are feasible by chorionic villus analysis. Lg of DNA per direct chorionic villus sample, 16 James D. Goldberg and Mitchell S. Golbus TABLE IX. DNA Analysis of Chorionic Villi Disorder Prenatal diagnosis a Reference Myotonic dystrophy Autosomal dominant polycystic kidney disease Fetal-sex determination Cystic fibrosis 13-Thalassemia Feasible Made Lunt et at. (1986) Reeders et at. (1986) Made Made Made Adrenoleukodystrophy Hemophilia A Made Feasible Sickle cell Hemophilia B (X-Thalassemia Made Feasible Made Gosden et al.

This mutation also occurs in a TaqI recognition sequence and was characterized by cloning and sequencing of the abnormal factor VIII gene. The proband had severe hemophilia A and did not develop inhibitors to factor VIII. This mutation suggests that the last 26 amino acids of the mature factor VIII polypeptide are crucial for its biological activity. 3. CGA-CAA in codon 2326, ex on 26 of the factor VIII gene. , 1986). It is noteworthy that this missense mutation occurred in the same codon as the previous one and within the recognition sequence of the same TaqI site.

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