Biopolym. Cell. 2003; 19(2):190-195.
http://dx.doi.org/10.7124/bc.00064D
Molecular Biomedicine
A role of immunogenetic markers in development of genetically determined pathology
1Zastavna D. V., 1Gnateiko O. Z., 1Makukh C. V., 1Terpylyak O. I., 1Nadyuk Z. O.
  1. Institute of Hereditary Pathology MAS of Ukraine
    31a, Lysenko Str., Lviv, Ukraine, 79008

Abstract

Pecularities of the major histocompatibility complex (MHC) DQA1-allele distribution in the parents of children with Down's syndrom and/or cystic fibrosis have been studied considering that both immunological status of organism and its susceptibility to a specific disease are determined by the MHC function. The data obrained allow to regard autoimmune thyroiditis as a potential risk factor for the aneuploidic posterity. They also predict that elevated expression of the major histocompatibility class II DQAl0501-allele, responsible for the susceptibility to autoimmune processes, especially for diabetes type I, may cause the cystic fibrosis manifestation of pancreatitis in the patients with major delF508-mutation.
Full text: (PDF, in Ukrainian)

References

[1] Bromley B, Lieberman E, Shipp TD, Richardson M, Benacerraf BR. Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy. J Ultrasound Med. 1998;17(2):127-31.
[2] Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA. Age-adjusted ultrasound risk assessment for fetal Down's syndrome during the second trimester: description of the method and analysis of 142 cases. Ultrasound Obstet Gynecol. 1998;12(1):8-14.
[3] Todd JA. Interpretation of results from genetic studies of multifactorial diseases. Lancet. 1999;354 Suppl 1:SI15-6.
[4] Kolchanov NA, Anan'ko EA, Kolpakov FA, Podkolodnaia OA, Ignat'eva EV, Goriachkovskaia TN, Stepanenko EL. [Gene networks]. Mol Biol (Mosk). 2000;34(4):533-44.
[5] Drannik GM. Structure and function of histocompatibility antigens HLA system. Lab diagn. 1997;(2):19-27.
[6] Shabolin IN, Serova LD. Current concepts of human blood antigens. Ros Vestn Perinatology Pediatrics. 1996; 16:35-42.
[7] Kozlova SI, Semenova E, Deminova IS, Blinnikova OG. Hereditary syndromes, medical and genetic counseling. M.: Meditsina, 1987. 320 p.
[8] Baranov VS, Baranova EV, Ivaschenko TE, Asev MV. Human genome and genes "predisposition". Saint Petersburg: Intermedika, 2000. 271 p.
[9] Tambyah PA, Cheah JS. Hyperthyroidism and Down syndrome. Ann Acad Med Singapore. 1993;22(4):603-5.
[10] Nicolson LB, Wong FS, Ewins DL, Butler J, Hollnd A, Demaine AG, McGregor FV. Susceptibility to autoimmune thyroiditis in Down's syndrome is associated with the major histocompatibility class II DQA 0301 allele. Clin Endocrinol. 1994; 41(3): 381-3.
[11] Jensen P, Johansen HK, Hoiby N, Cohen IR. Autoantibodies to pancreatic hsp60 precede the development of glucose intolerance in patients with cystic fibrosis. Respir Med. 2000; 96(2): 87-94.
[12] Bertolaccini ML, Atsumi T, Caliz AR, Amengual O, Khamashta MA, Hughes GR, Koike T. Association of antiphosphatidylserine/prothrombin autoantibodies with HLA class II genes. Arthritis Rheum. 2000;43(3):683-8.
[13] Aron Y, Polla Bs, Bienvenu T, Dall’ava J, Dusser D, Hubert D. HLA Class II Polymorphism in Cystic Fibrosis: a possible modifier of pulmonary phenotype. Am J Respir Crit Care Med. 1999;159(5):1464–8.
[14] Gubler EV, Genkin AA. Application of nonparametric statistics in biomedical research. L: Meditsina, 1973; 72 p.
[15] Gnateiko OZ, Terpylyak OI, Zastavna DV. New approaches to preconception prevention of chromosomal aberrations. Pediatrics, Obstetrics and Gynecology. 2000; 6: 11-15.
[16] Livshits LA, Kravchenko SA, Musienko SI, Maliarchuk SG. [An analysis of the mutations in the mucoviscidosis gene: the origin and distribution of the delF508 major mutation in Ukraine]. Tsitol Genet. 1995;29(6):67-73.
[17] Makukh HV, Kocheva S, Zastavna DV, Kornijenko YO, Hnatejko OZ. Mutation analysis of CFTR gene by DGGE method In CF patients from West Ukraine. Biopolym Cell. 2001; 17(4):319-324.