Abstract: For everybody, if you want to start joining with others to read a book, this mammalian population genetics is much recommended. And you need to get the book here, in the link download that we provide. Why should be here? If you want other kind of books, you will always find them. Economics, politics, social, sciences, religions, Fictions, and more books are supplied. These available books are in the soft files.

Abstract: difficult areas for those concerned with inherited metabolic disease. The literature is confusing and the section on pyruvate metabolism is excellent because contributors have tried to piece together what is known. Biochemical and clinical problems are discussed but inevitably many questions remain unanswered. For instance, why do not all patients with pyruvate carboxylase deficiency have hypoglycaemia after a long fast like those with fructose 1-6 diphosphatase deficiency? The diagnosis and management of glycogen storage disease is discussed in detail by several contributors including a comprehensive review by Professor Fernandes in the F P Hudson Memorial Lecture. Finally, some genetic aspects of diabetes are discussed. The papers in this book cover both the biochemical and clinical aspects of inborn errors of carbohydrate metabolism, both of which are essential for the optimal care of our patients. I can strongly recommend this book to all those who work in this field. J V LEONARD

Abstract: Although a relationship between the X and Y chromosomes and mammalian sexual development has long been recognized, a detailed understanding of this relation is still lacking. Recent advances in somatic cell genetics and recombinant DNA technology should provide the tools for solving this fundamental problem in developmental genetics.

Abstract: In cultured fibroblasts of patients with numerical and structural X chromosome aberrations the activity of steroid sulfatase (STS) is correlated with the number of functional STS gene copies. While normally, this X-linked gene is not inactivated, our data suggest that it may be subject to inactivation when carried on a structurally altered X-chromosome. Similar inactivation patterns have been reported earlier for the Xg locus which, like STS, is located on the distal protion of Xp.

Abstract: The origin and maintenance of genetic recombination are unsettled evolutionary issues. Genetic variation affecting recombination frequency appears to be pervasive in nature, suggesting that natural selection must increase recombination frequency under some circumstances. However, theoretical arguments and experimental evidence indicate that the frequency of recombination should be reduced by natural selection.

Abstract: A small accessory chromosome was detected in amniocytes and maternal lymphocytes and identified as an inversion duplication of the short arms of two chromosomes 15. This is the first time that complete identification of this extra chromosome has been possible prenatally. The variant chromosome was not associated with clinical abnormalities.

Abstract: Chromosomal abnormalities are an important cause of mental retardation. We studied the frequency of karyotype abnormalities in 74 mentally retarded patients selected from 306 patients referred to our clinic. Giemsa-banding was done on all cases. Additional studies in abnormal cases included autoradiography and X and Y chromatin. Karyotype analyses and blood group (Xg and Duffy) studies were carried out in family members in some cases.

Abstract: This article summarizes the genetics and clinical features of ataxia telangiectasia (AT) and then reviews recent cytogenetic, cellular, and biochemical studies which support the hypothesis that a defect in DNA repair is responsible for the various manifestations of the disease The biochemical evidence further indicates that the defect specifically reduces the cellular capacity to remove bases and nucleotides damaged by ionizing radiation, without affecting the cells' ability to scavenge free radicals or to rejoin breaks in the sugar-phosphate backbone of DNA Suggestions for additional research to more precisely identify the repair defect will also be presented

Abstract: A list is presented of 3,749 references to scientific papers, abstracts, books, technical reports, and theses on genetics of animals and plants, including the related areas of statistical human genetics and quantitative genetics. (CH)

Abstract: It is now widely accepted that the majority of human cancers arise from environmental factors, such as smoking, alcohol, diet, and other aspects of lifestyle (Cairns 1978; Higginson and Muir 1979). Most known carcinogens undergo metabolic activation in the tissues, especially the liver, to produce reactive electrophilic products. These\"ultimate carcinogens\" are capable of reacting with cellular DNA (Miller 1978; McCann and Ames 1976) resulting in the destruction of some of the genetic information encoded in the DNA molecules. These chemical alterations in the DNA molecules are referred to as DNA damage, and to combat the harmful effects of such damage all cells have developed a series of complex and elaborate repair processes, which are under genetic control. A number of rare genetic diseases in man are known, in which a defect in one of these DNA repair systems has either been proven or strongly implicated (Arlett and Lehmann 1978; Setlow 1978). These disorders show an autosomal recessive mode of inheritance. In this editorial I shall present a summary of the molecular studies, and of studies on cellular mutagenesis, which have been obtained with cultured cells from individuals with these diseases, and I shall attempt to relate these to the clinical symptoms of the disorders, especially to the incidence of cancer.

Abstract: Blood coagulation factor XIII (fibrin stabilizing factor) is responsible for the formation of 7-glutamyl-e-lysine crosslinks between fibrin monomers during the coagulation process (for review see Losowsky and Miloszewski 1977). Factor XIII obtained from plasma is comprised of two different subunits that are the products of separate structural loci (Board 1979, 1980). Previous studies have shown that both these loci are polymorphic and each has several alleles (Board 1979, 1980). In the normal population, this polymorphic variation is not associated with any clinical abnormality. However, recent studies by Board et al. 1980 and Castle et al. 1981, have shown that rare cases of factor XI I IA subunit deficiency may arise from the inheritance of either a null allele, or an allele with an unstable product. Further studies of populations from the Pacific region have now revealed previously undescribed phenotypes of the A subunit.

Abstract: A large pedigree with a satellited Yq chromosome is described, Q, C, and NOR banding were performed. Family C proband suffers from a Klinefelter syndrome.

Abstract: In man, genetic variation in urinary pepsinogen (Pg5) has been shown to be controlled by a single autosomal locus with two alleles, Pg~ and pgb (Samloff and Townes 1970). The expression of Pg a is dominant and the Pg locus has tentatively been linked to the HLA complex (Weitkamp et al. 1975). Because of a lack of linkage to the PGM3 locus and weak linkage to HLA, Gedde-Dahl and co-workers (1978) have suggested that Pg may be located on the terminal end of the short arm of chromosome 6. Recent investigations in the mouse have demonstrated urinary pepsinogen variation controlled by a single autosomal locus (Upg-1) closely linked to the It-2 complex (6 cM). The locus consists of two alleles, Upg-IS and Upg-ll, which are expressed codominantly (Szymura and Klein 1981). I have examined 27 inbred strains to determine if there is similar polymorphism in urinary pepsinogen in the rat. The results described below demonstrate that genetic variation in urinary pepsinogen is common in laboratory rats. This variation is controlled by a single autosomal locus which segregates independently of the rat major histocompatibility complex (RT1) and appears to be linked to the coat-color locus albinism (c). The animals that were used in this study were derived from the colony of rats maintained at the University of Pittsburgh School of Medicine. Blood for serological typing of the RT1 and RT2 alloantigens was obtained from the tail vein under fluothane anesthesia and the methods used for determining the various phenotypes have been described previously (Cramer et al. 1980). Urine samples were collected from inbred and backcross animals, frozen at 7 0 ° C and processed within 4 weeks. All blood and urine samples were collected in duplicate on separate days and processed independently. Genetic variations in a urinary pepsinogen in the urine of inbred rats was detected using a vertical, thin layer, polyacrylamide gel electrophoresis as described

Abstract: The activity of the SODCu/Zn gene in balanced and unbalanced carriers of the 21/D and 21/G translocations is compared to that of subjects with free trisomy 21 and with normal karyotype. The results show that the translocation of the 21 chromosome has no effect on the activity of the SODCu/Zn gene.

Abstract: A dysmorphic 5-year-old girl with severe growth and mental deficiency was studied. She presented a de novo interstitial 2p deletion. Karyotype: 46,XX,del(2)(p13p15).

Abstract: In a collection of Nigerian serum samples typed for alleles of factor B of the alternative complement pathway, a very high frequency of BfF was found (0.69). In addition, a new variant was found in two samples. This variant (F1.29) moved faster than BfF1. It was hemolytically active.

Abstract: In a previous paper we reported the detection of a second o~ chain, containing the substitution leucine ~ histidine in position 113 (or 114), in the hemoglobin of several domestic sheep (Vestri et al. , 1980). This chain, indicated l~o?~is (previously called o~2), is less abundant than the common o~ chain, indicated i ~aLeu (previously called od), the ratio between l ~Io~Leu and lIanis chains being either about 1.8:1 or about 4:1, as assessed by measuring the areas of the OD peaks obtained in CMC chromatography. Crosses between sheep having only the ~%~Leu chain in the hemoglobin and sheep having both ~o~ Le\" and ~lnis chains at a 1.8:1 ratio gave lambs having, in all eight cases so far examined, both l llo~Leu and ilnis chains at a 4:1 ratio. The results of breeding experiments led us to suggest that (1) the ~ locus is duplicated in all sheep, the genes at one locus (oq) having a synthetic activity 1.8 times higher than those at the other one (an); (2) two alleles, one controlling the IIo~Lc\" chain (identical to the ~a L~u chain determined by the cq locus) and the other one directing the I~c~His chain, are present at the less efficient locus; (3) sheep having only the common o~ chain in the hemoglobin would be homozygous for the ro~L~u and for the no~Leu chains; sheep having the common and the variant chain at a 4:1 ratio would be homozygous for the laLe\" chain and heterozygous for the %~L~, and the ~Ic~r~s chains; sheep with both chains at a 1.8:1 ratio would be homozygous for the Ic~Le\" chain and homozygous for the lIc~His chain (Table I). In this study we report some more data supporting this hypothesis.

Abstract: The accumulation of non-functional (especially lethal) genes on sex-chromosomes will be slower in metatherians than in eutherians, in eases where the sex-determining system is other than XY/XX.

Abstract: Using agarose gel electrophoresis and histochemical staining, we have found three genetic loci affecting pancreatic proteinase in mice (Watanabe and Tomita, 1974; Watanabe et al. , 1976a, b). The P r t 2 locus is involved with chymotrypsin (EC 3.4.4.5) and is located on chromosome 8. The Pr t -1 and P r t 3 loci are related to trypsin (EC 3.4.4.4). Close linkage was observed between the two loci, although they are not determined to be located on a specific chromosome as yet. Mice homozygous for Pr t -1 a possess two bands in Try-I. On the other hand, mice homozygous for Pr t -1 b show only one band. Since only a single gene is involved as determined by breeding data, we have proposed that duplication and subsequent change of a proteinase gene could give rise to two bands in mice homozygous for Pr t -1 a. Trypsin is formed by activation of trypsinogen by enterokinase. However, not only does enterokinase activate trypsinogen, but trypsin itself acts autocatalytically. Therefore, trypsin causes autolysis and makes conformational isomers (Schroeder and Shaw, 1968: Maroux and Desnuelle, 1969). Thus, it might be claimed that Pr t -1 is a processing gene involved in denaturation rather than a structural gene. In this paper, I demonstrate that genetic variation at the Pr t -1 locus affects trypsinogen as well as trypsin, and suggest that it must be a locus for structural genes of trypsinogen.

Abstract: In 1971 we described the first two cases of \"proven\" trisomy 22 using quinacrine fluorescence (Punnett et al. 1971). In a third patient, studied using trypsin giemsa banding, (Punnett et al. 1973) one of the chromosomes 22 appeared to be shorter. This deleted 22 was also seen in four normal members of the family. (No size difference was noted in the two original patients studied using quinacrine banding.) It was assumed that the deleted 22 was one member of a pair of chromosomes comprising a balanced translocation. The other member was not identified. Lejeune (1972) was the first to recognise, in a sterile male, the involvement of chromosome 11 in this rearrangement. Subsequently there have been many reports of normal family members with the balanced translocation ( l l ;22)(q23;qll) , usually discovered through a propositus with an extra deleted 22. Ferguson-Smith (1978) has suggested that this may be one of the most common reciprocal rearrangements in man. The affected offspring have tertiary trisomy 22;11

Abstract: The lethal, malignant growth of P815-X2, a mastocytoma of DBA/2 origin, is retarded in hybrid recipients between DBA/2 and other allogeneic strains relative to homozygous DBA/2 recipients, even though both recipient types are histocompatible with the tumor (Williams et al. 1975). Standard (C57BL/6 x DBA/2)F~ hybrids (B6D2F1) consistently live approximately 30 percent longer than the DBA/2 mice. This resistance can be transplanted into lethally irradiated DBA/2 mice with antiThy-1 +C-treated, B6D2F1 bone marrow. Using combinations of B6D2F1 and DBA/2 mice, radiation chimera studies demonstrate that this hybrid effect is conferred by F~ bone-marrow cells which function optimally if they mature in, or under the influence of, F~ thymus epithelium (Williams et al. 1980). Since the genes of the major histocompatibility complex (H-2) are involved in a wide range of immunological phenomena associated with hybrid resistance and regulation of the immune response (Klein 1975, Cudkowicz 1978), we chose to look further for effects of particular genes in the H-2 b haplotype of C57BL/6 mice. We compared the effects on hybrid resistance of a series of mutations of the H 2 K b gene which codes for one of the three class I, 45 000 dalton glycoprotein, histocompatibility alloantigens of the H-2 complex (H-2K, H-2D and H-2L). In this report we show that most of these mutations result in diminished hybrid resistance to P815-X2. Similar diminished resistance was also found in the case of one mutation involving the I -A subregion of the H-2 complex. Two inbred mouse strains were employed: DBA/2J (abbreviated D2) and C57BL/6Kh (abbreviated B6). The former line was obtained from the Jackson Laboratory and the latter (as well as the mutant strains) was from the colony of Dr. Henry Kohn. Mutant strains B6.C-H-2 bin1 (formerly called H-2 b\" or Hz-1), B6-H-2 b\"3 (formerly H-2 b~ or M505), B6-H-2 b'5 (formerly H-2b°l), B6.CH-2 bin9 (formerly H-2bi), B6.C-H-2 b\"l 1(formerly H-2bk), and B6.C-H-2 b\"l 2 (formerly H-2 bin) were all developed and maintained in that colony except for the first two which were initially obtained through the courtesy of Drs. D. W. Bailey, S. G. Nathenson, and D. C. Shreffler (and subsequently maintained in the colony). All mutant strains were

Abstract: Contrary to earlier reports from Asia, trisomy 21 is common in Burma and other chromosome abnormalities are found. A variety of dominant, recessive and X-linked genetic disorders occur. Twins are foun

Abstract: At an open meeting of cytogeneticists held during the 6th International Congress of Human Genetics in Jerusalem, a new Standing Committee for Human Cytogenetic Nomenclature was elected to serve for a period of five years. The members are Martin Bobrow (Europe), Maimon Cohen (USA and Canada), Uta Francke (USA and Canada), David Harnden (Europe), Patricia Jacobs (USA and Canada), Grant Sutherland (Asia and Australasia), and Jacob Wahrman (Middle East and Africa). The committee would like to receive comments on ISCN (1978) and ISCN (1981) to help with future revisions.