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Results for “Genetic polymorphism”

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At least 865 records · Page 48Linked to original sources
PubMed2006

[Genetic polymorphism of glutathione-S-transferase M1 and T1 in children with acute lymphoblastic leukemia].

Children with acute lymphoblastic leukemia (ALL) and deletions of glutathione-S-transferase M1 (GSTMI) and glutathione-S-transferase T1 (GSTT1) have better event-free survival and lower rates of relapses than those with GSTM1 and/or GSTT1. It is concluded that deletions of GSTM1 and/or GSTT1, double-null genotype are closely associated with the good prognosis of childhood ALL treated according to the ALL-BFM 90 and ALL-MB 91 protocols.

Adolescent↗
PubMed2006

[An investigation for genetic polymorphisms of 10 STR loci on chromosome X of Chinese Hui nationality population in Ningxia region of China].

OBJECTIVE: To investigate the alleles and genotypes frequency of 10 short tandem repeat (STR) loci (DXS101, DXS6789, DXS6799, DXS6804, DXS7130, DXS7132, DXS7133, DXS7423, HPRTB, DXS8378) on X chromosome of Chinese Hui nationality population. METHODS: The study of 10 STR loci was performed by using the techniques of PCR, polyacylamide gel electrophoresis and silver staining. RESULTS: Among unrelated Hui individuals, the allele numbers of 10 STR loci DXS101, DXS6789, DXS6799, DXS6804, DXS7130, DXS7132, DXS7133, DXS7423, HPRTB, DXS8378 were 9, 8, 4, 6, 6, 6, 4, 4, 5 or 5 respectively; the numbers of genotypes were 17, 22, 7, 14, 14, 15, 6, 7, 12 or 8 respectively. The distribution of genotypes from these 10 STR systems fitted the Hardy-Weinberg equilibrium (P> 0.05). Polymorphisms information content of 10 STR loci, except for DXS7133 (0.48) and DXS7423 (0.48), ranged from 0.54 (DXS6799) to 0.80 (DXS6789); the power of discrimination were from 0.89 (DXS7133, DXS7423) to 0.99 (DXS6789, DXS7132, DXS101). CONCLUSION: The loci of 10 STR on chromosome X are appropriate for individual identification, paternity testing involving a female child and for study on related disease.

Alleles↗
PubMed2006

[The congenital morphogenetic variants and genetic polymorphism of the system of xenobiotic detoxication in children living in dioxin-contaminated regions of South Vietnam].

The presence of dioxins and dioxin-containing ecotoxicants (DCE) in human environment leads to multi-level homeostasis disbalance and, eventually, dioxin pathology (DP) develops. This was demonstrated for the adult population of South Vietnam (1), who had suffered from the use of military chlorphenoxiherbicides to which dioxins had been added. The subjects of this study were children who belonged to the second generation of the inhabitants of DCE-polluted South Vietnam areas. In this sample, the frequency of malformations depending on two factors, genes GSTMI, GSTT1, CYP1A1 genotypes, and DCE exposure, were estimated. The study demonstrates that an increased level of congenital morphogenetic variants per one child is associated with the presence of DCE in the environment, as well as the fact that this parameter is influenced by genotypes of xenobiotic detoxication genes.

Alleles↗
PubMedDate not supplied

[Genetic polymorphism of glutathione-S-transferases and inhibition of DNA repair].

A complex investigation of different cell defence systems, such as: DNA repair, antioxidant system (SOD), xenobiotic detoxification system (glutathione-S-transferases M1 and T1), radioadaptive response (RAR) in lymphocytes of patients with hereditary disease of connective tissue (Elers-Danlose syndrome) was carried out. The frequency of genotype GSTM1 (0/0) in children with Elers-Danlose syndrome (23%) is lower as compared to the control group (44%). The lymphocytes of children with Elers-Danlose syndrome were characterized by reduced ability to repair gamma-induced damage of DNA. At given size of the samples of examined children no correlative relationships between GST-status of organism and the condition of other cell defence systems were revealed. The data obtained demonstrate the individual peculiarities of the defence systems in repair-deficient cells of the examined children.

Child↗
PubMedDate not supplied

[The genetic polymorphism of the blood proteins in RID-positive reacting cows].

Cattle herd of Black-and-White, Red and Simmental breeds having positive or negative RID-reaction to leucosis was studied as to the polymorphism of serum blood proteins in three loci: Tf, Am and Cp. One system of polymorphic proteins has been determined as having a higher concentration of homozygotes (Tf) and another one as having a higher concentration of heterozygotes (Am) within one and the same herd among animals with the positive RID-reaction.

Alleles↗
PubMed1991

[Genetic polymorphism of alpha 2HS-glycoprotein in the Han population in Chengdu].

The distribution of alpha 2HS-glycoprotein (AHSG) phenotype frequencies in the Han population in Chengdu was studied using polyacrylamide gel isoelectric focusing followed by immunofixation with rabbit anti-human AHSG serum. Two hundred eighty-six serum samples collected at random from unrelated individuals were phenotyped for AHSG. The distribution of AHSG phenotype frequencies was found to be AHSG 1 = 47.20%, AHSG 2 = 8.04% and AHSG 2 - 1 = 44.76%. The observed numbers agreed well with the expected numbers calculated on the basis of the Hardy-Weinberg equilibrium. The allele frequencies were estimated to be AHSG.1 = 0.6958 and AHSG.2 = 0.3042. The discrimination probability of AHSG is 0.5704 and the exclusion probability of parentage 0.1669.

China↗
PubMedDate not supplied

Genetic polymorphism at the phosphoglucomutase 1 (PGM1) locus in Cosenza Province (Calabria--southern Italy).

1315 school-boys of the Cosenza province (Calabria - southern Italy) were subtyped for the PGM1 locus. Three subsamples were examined, two from the Tyrrhenian and the Ionian coasts, respectively, and one from the internal part of this province. The PGM1*1S, PGM1*2S and PGM1*2F gene frequency estimates obtained for the population of the Ionian coast were significantly different from those of the tyrrhenian coast. Since the three subsamples were of similar size, estimates weighted also with the respective population sizes were calculated.

Adolescent↗
PubMed1991

Genetic polymorphism of rat liver gangliosides.

Liver ganglioside patterns of eight rat strains were classified according to two phenotypes: SHR type, characterized by predominance of b-series gangliosides (GD1b, GT1b, GQ1b), and DA type, characterized by predominance of a-series gangliosides (GM1, GD1a). Comparison of ganglioside pattern expressed in the liver of F1 hybrids and backcross F2 hybrids indicated that SHR type is controlled by a single autosomal-dominant gene which probably determines the expression of sialytransferase 2 activity for synthesis of GD3 from GM3.

Animals↗
PubMed1990

Genetic polymorphism of immunoglobulin G in the mink. VI. A regulatory gene controlling the expression of the gamma-chain constant region allotype of mink immunoglobulin.

We describe here the inheritance of H6, one of the six known allotypes of the gamma-chain constant region of mink immunoglobulin (IgG). H6 is not present in minor concentrations in the serum, and its phenotypic expression is stable. However, in offspring of some of (H6-)X(H6-) crosses. H6 appeared unexpectedly and, by contrast, it disappeared in some H6+/H6+ homozygote offspring. Based on pedigree analysis, a transregulation of H6 expression in the serum by an autosomal recessive gene not linked to the structural allotype gene is postulated.

Animals↗
PubMedDate not supplied

[Modern concepts of the metabolism and genetic polymorphism of collagen (a review)].

The data on structure, biosynthesis, post-synthetic modifications, extracellular development and degradation of collagen are briefly reviewed. Role of main enzymes, participating in collagen turnover, is discussed. Isoforms of the protein are considered in details. The importance of studies on collagen proteins is noted in connection with investigations on morphogenesis, cell differentiation, regeneration.

Animals↗