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Association of chosen microsatellite markers on chromosomes 10, 11p and 14q with IDDM susceptibility in the population of midwestern Poland

100%

Jungerman M., Fichna P.

Journal of Applied Genetics

1996

vol. 37

issue 2

217-228

In search for new markers of insulin-dependent diabetics (IDDM) susceptibility we studied the CATT tetranucleotide repeat in intron 1 of tyrosine hydroxylase (TH) gene on chromosome 11p, the CA repeat at T-cell receptor alpha chain (TCRA) locus on chromosome 14q region containing glutamic acid decarboxylase (GAD2) gene.Alleles at these microsatellite loci were indentified in a population of diabetic children and unrelated healthy controlos originationg from Wielkopolska, a midwestern region of Poland.We found significant association of certain alleles at TH, TCRA and D10S211 loci with diabetes in the population under study.On the contrary, none of the alleles at D10S213 locus was associated with the disease.Our findings indicate that typing of microsatellite markers may represent useful additional tool for identifying individuals at high risk of developing IDDM.Regarding loci on chromosome 10 our data and data publishing by other autors may suggest the existence of two separate regions of associatin with IDDM susceptibility on this chromosome.

Sequence variants of chemokine receptor genes and susceptibility to HIV-1 infection

88%

Parczewski M., Leszczyszyn-Pynka M., Kaczmarczyk M., Adler G., Binczak-Kuleta A., Loniewska B., Boron-Kaczmarska A., Ciechanowicz A.

Journal of Applied Genetics

2009

vol. 50

issue 2

159-165

Genetic susceptibility to HIV infection was previously proven to be influenced by some chemokine receptor polymorphisms clustering on chromosome 3p21. Here the influence of 5 genetic variants was studied: D32 CCR5, G(?2459)A CCR5, G190A CCR2, G744A CX3CR1 and C838T CX3CR1. They were screened in a cohort of 168 HIV-1 positive adults [HIV(+) group] and 151 newborns [control group] from northwestern Poland. PCR-RFLP was performed to screen for the variants (except for D32 CCR5 polymorphism, where PCR fragment size was sufficient to identify the alleles) and then electrophoresed on agarose gel to determine fragment size. Distribution of genotypes and alleles was not significantly different between the groups except for the CCR5 polymorphisms, with the D32 allele and the (?2459)A CCR5 allele more frequent among neonates than in the HIV(+) group. No D32/D32 homozygotes were found in the HIV(+) group, but 16.1% were D32/wt heterozygotes. In the control group, 1.3% were D32/D32 homozygotes and 26.0% were D32/wt heterozygotes. Linkage between the chemokine polymorphisms was calculated using the most informative loci for haplotype reconstruction. Haplotypes containing D32 CCR5, 190G CCR2 and 744A CX3CR1 were found to be significantly more common in the control group. This suggests an association between these haplotypes and resistance to HIV-1 infection.

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2 Journal of Applied Genetics

1 2009

1 1996

1 Adler G.

1 Binczak-Kuleta A.

1 Boron-Kaczmarska A.

1 Ciechanowicz A.

1 Fichna P.

1 Jungerman M.

1 Kaczmarczyk M.

1 Leszczyszyn-Pynka M.

1 Loniewska B.

1 Parczewski M.

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Association of chosen microsatellite markers on chromosomes 10, 11p and 14q with IDDM susceptibility in the population of midwestern Poland

Sequence variants of chemokine receptor genes and susceptibility to HIV-1 infection