Download e-book for iPad: Thompson & Thompson - Genetics in Medicine (7th Edition) by Roderick R. McInnes, Huntington F. Willard, Robert L.

By Roderick R. McInnes, Huntington F. Willard, Robert L. Nussbaum

ISBN-10: 1416030808

ISBN-13: 9781416030805

Up to date to mirror the most recent adjustments in genetics, Thompson & Thompson's Genetics in medication returns as the most favourite texts during this attention-grabbing and speedily evolving box. by means of integrating the vintage rules of human genetics with glossy molecular genetics, this clinical reference booklet makes use of various studying instruments that can assist you comprehend quite a lot of genetic issues.

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Extra resources for Thompson & Thompson - Genetics in Medicine (7th Edition)

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B, Examples of three medically important human genes. Different mutations in the β-globin gene, with three exons, cause a variety of important disorders of hemoglobin (Cases 37 and 39) . Mutations in the BRCA1 gene (24 exons) are responsible for many cases of inherited breast or breast and ovarian cancer (Case 5) . Mutations in the β-myosin heavy chain (MYH7) gene (40 exons) lead to inherited hypertrophic cardiomyopathy. and illustrate a number of features that characterize gene families in general.

Gene Families Many genes belong to gene families, which share closely related DNA sequences and encode polypeptides with closely related amino acid sequences. Members of two such gene families are located within a small region on chromosome 11 (see Fig. 0 kb TATA BRCA1 20 0 80 kb 60 40 CG-rich MYH7 0 5 10 15 20 kb Figure 3-4 ■ A, General structure of a typical human gene. Individual labeled features are discussed in the text. B, Examples of three medically important human genes. Different mutations in the β-globin gene, with three exons, cause a variety of important disorders of hemoglobin (Cases 37 and 39) .

Although a few genes in the human genome have no introns, most genes contain at least one and usually several introns. Surprisingly, in many genes, the cumulative length of the introns makes up a far greater proportion of a gene’s total length than do the exons. Whereas some genes are only a few kilobase pairs in length, others stretch on for hundreds of kilobase pairs. There are a few exceptionally large genes, such as the dystrophin gene on the X chromosome (mutations in which lead to Duchenne muscular dystrophy [Case 12] ), which spans more than 2 million base pairs (2000 kb), of which, remarkably, less than 1% consists of coding exons.

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Thompson & Thompson - Genetics in Medicine (7th Edition) by Roderick R. McInnes, Huntington F. Willard, Robert L. Nussbaum


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