Pedigree analysis

Sobel E, Lange K. Descent graphs in pedigree analysis applications to haplotyping, location scores and marker sharing statistics. Am J Hum Genet 1996 58 1323-1337. 

D. Pedigree analysis evaluates transmission of a single-gene disorder within a family or kindred (Figure 13-1). 

Figure 13-1. Definitions of symbols used to evaluate inheritance patterns for pedigree analysis and relationships within kindreds. Generations are assigned Roman numerals and individuals within each generation are indicated by Arabic numerals. The arrow points at the proband, the person in whom the genetic disorder was first diagnosed.

Pedigree Analysis, an approach widely used where experimental breeding is not practical. Pedigrees show the inheritance of specific Iraits. which can be traced, in all of lhe members of a family line. Human pedigrees have been very useful in terms of tracing the familial aspects of certain diseases. One of the first diseases so traced was hemophilia. Stock... 

Gene analysis pedigree analysis, genetic markers, linkage analysis, gene mapping 384, 385, 401-433... 

Skill 7.2 Analyze the transmission of genetic information (e.g., Punnett squares, sex-linked traits, pedigree analysis). 

HLA haplotypes were initially defined by five loci, HLA-A, -5, -C, -DR, and -DQ (Kostyu, Ober, Dawson, Ghanayem, Elias, Martin, 1989 Kostyu et ah, 1993). In order to re-evaluate these results, we typed additional HLA region loci spanning from HLA-G to HLA-DPB in 80 or more Hutterites who had been previously typed for the 5-locus haplo-type (Figure 1). The methods used to type each locus are described elsewhere (Ober et al., 1998 Weitkamp Ober, unpublished). The results of these studies indicated that there are 52 unique ancestral haplotypes and 15 contemporary recombinant haplotypes defined through pedigree analysis (Weitkamp and Ober, unpublished). 

Wide variation in the rate of acetylation of isoniazid and of other drugs which are metabolized by acetylation is not unique to man but is observed in several other species. Definitive studies establishing that such variability is primarily the result of inherited differences between animals of a species have been carried out in only one species other than man, i.e., the rabbit (Frymoyer and Jacox, 1963a,b). Frymoyer and Jacox found that when sulfadiazine was administered to rabbits (20 mg/kg), half-life determinations of the unmetabolized drug in blood were distributed bimodally (Fig. 4) with a mean of 41 minutes for the rapid acetylator subpopulation and a mean of 89 minutes for the slow acetylator subpopulation. This difference could not be attributed to differences in volumes of distribution of unacetylated sulfadiazine, in rates of distribution of sulfadiazine to the body water, or to age or sex. Furthermore, they showed from pedigree analysis of 15 rabbit families that the pattern of inheritance of sulfadiazine metabolism in the rabbit was essentially the... 

An autosomal locus for the APRT structural gene has been suggested previously from pedigree analysis, evaluation of human mouse somatic cell hybrids and an assessment of rare electrophoretic variants. Hyperuricemia was present in the propositus with APRT deficiency and in two family members with normal APRT. The other seven APRT deficient subjects were normouricemic. This illustrates discordance of APRT deficiency and hyperuricemia in the pedigree. 

---