Read e-book online Genetic and Metabolic Disease in Pediatrics PDF

Read e-book online Genetic and Metabolic Disease in Pediatrics PDF

By June K. Lloyd and Charles R. Scriver (Eds.)

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Linkage analysis may be direct when the parental genotypes for two loci are known, both for which alleles are present and in what phase they are in relation to each other (whether they are on the same or homologous chromosomes). In this instance, linkage can be evaluated by counting the number of recombinant and non-recombinant types in the children of such parents. Unfortunately, this is not the usual situation for linkage analysis in humans. As a result, more complicated statistical approaches have been developed, as described below.

The loss of the human chromosomes is approximately random so that cloning of the somatic cell hybrid cells gives hybrid cell clones with different human chromosome contents. By correlating the expression of human genes or the direct measurement of the human genes (DNA), the genes can be mapped to specific human chromosomes. This method has been particularly powerful because it does not depend upon the need for polymorphic human markers, but instead uses species differences to distinguish the human genes from the rodent genes.

By the use of different restriction endonucleases, a potentially large number of different base sequences may be detected in a population. By isolating DNA from cells of individuals and treating them with restriction endonucleases, the DNA fragments can be separated by molecular size using agarose gel electrophoresis. One then hybridizes radioactive-labeled DNA probes of specific genes or DNA probes of non-specific or unidentified functions to the DNA which has been treated with the restriction endonucleases and separated by the electrophoresis.

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