ТИРОНЕТ – все о щитовидной железе Для специалистов Журнал Тиронет Архив журнала 2002 год № 1-2

Генетические факторы в патогенезе эндемического зоба

Фадеев В.В., Абрамова Н.А.
Проблемы эндокринологии – 2002 год
(Кафедра эндокринологии ММА им. И.М. Сеченова; зав. – академик РАМН Дедов И.И.)



СПИСОК ЛИТЕРАТУРЫ

  1. Айала Ф., Кайгер Дж. Современная генетика. – М, 1987.

  2. Бочков Н.П. Клиническая генетика. – М, 1997.

  3. Кандрор В.И. Молекулярно-генетические аспекты тиреоидной патологии. // Пробл. Эндокринолю – 2001 – Т. 47, N 5. – С. 3 – 10.

  4. Николаев О.В. Эндемический зоб. – М, 1955.

  5. Сироткин В.М., Чупрун В.Ф. Опыт популяционно-генетического анализа в микроочагах эндемического зоба // Пробл. Эндокринол. – 1979 – Т. 25, №24 – С. 21-27.

  6. Хавин И.Б., Николаев О.В. Заболевания щитовидной железы. – М, 1961.

  7. Abramowicz M.J., Duprez L., Parma J., et al. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profaund hypoplasia of the thyroid gland. // J. Clin. Invest - 1997 – Vol. 99, N 12 - P. 3018 – 3024.

  8. Baas F., Bikker H., Geurts van Kessel A., Melsert R; et al. The human thyroglobuline gene: a polymorphic marker locolized distal to C-MYC on chromosome 8 band q 24 // Human Genetics - 1985 – Vol. 69, N 2. - P. 138 – 143.

  9. Barnett P.S., Jones T.A., McGregor A.M. et al. Regional sublocalization of the human thyroid peroxidase gene (TPO) by tritium and fluorescence in situ hybridization to chromosome 2p25-p24. // Cytogenet. Cell. Genet. – 1993 – Vol. 62, N 4. – P. 188 - 189.

  10. Bignell G.R., Canzian F., Shayeghi M. Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. // Am. J. Hum. Genet. – 1997 – Vol. 61 – P. 1123 – 1130.

  11. Brix T., Hegedus L. Genetic and environmental factors in the aetiology of simple goiter. // Ann. Med. – 2000 – Vol. 32, N. 3 – P. 153 - 156.

  12. Brocas H., Szpirer J., Lebo R.V., et al. The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat. // Cytogenet. Cell. Genet. – 1985 – Vol. 39, N 2 - P. 150 – 153.

  13. Capon F., Tacconelli A., Giardina E., et al. Mapping a dominant form of multinodular goiter to chromosome Xp22. // Am. J. Hum. Genet – 2000 – Vol. 67 – P. 1004 – 1007.

  14. Constans J., Ribouchon M.T., Gouaillard C., et al. A new polymorphism of thyroxin-binding globulin in three African groups (Mali) with endemic nodular goitre. // Hum. Genet. – 1992 – Vol. 89, N 2 – P. 199 - 203.

  15. Couch R.M., Hughes I.A., DeSa D.J., et al. An autosomal dominant form of adolescent multinodular goiter. // Am. J. Hum. Genet. – 1986 - Vol. 39. – P. 811 – 816.

  16. Dai G., Levy O., Carrasco N. Cloning and characterization of the thyroid iodide transporter. // Nature – 1996 - Vol. 379, N 6564. – P. 458 – 460.

  17. De Braekeleer M., Mayer G., Chaventre A. Genetic factors in iodine deficiency disoders: a general review. // Coll. Antropol. – 1998 – Vol. 22, N. 1 – P. 9 – 15.

  18. Dick M., Watson F. A possible variant of thyroxine-binding globulin in Australian Aborigines. // Clin. Chim. Acta – 1981 - Vol. 116, N 3 - P. 361 – 367.

  19. Dohan O. De la Vieja A., Carrasco N. Molecular study of the sodium-iodide symporter (NIS): a new field in thyroidology. // Trends Endocrinol Metab – 2000 – Vol. 11, N 3 - P. 99 – 105.

  20. Freire-Maia A., Freire-Maia D.V., Morton N.E. Epidemiology and genetic of endemic goiter II. Genetic aspects. // Human Heredity - 1982 – Vol. 32, N 3 - P. 176 - 180.

  21. Freire-Maia D.V., Freire-Maia A., Schull W.J., et al. Epidemiology and genetics of endemic goiter I. Epidemiological aspects. // Israel Journal of Medical Sciences - 1983 -Vol. 19, N 1. – P. 11 - 16.

  22. Fuerer D., Holzapfel H.P., Wonerow P., et al. Somatic mutations in the thyrotropin receptor gene and not in Gs-alpha protein gene in 31 toxic thyroid nodules. // J. Clin. Endocrinol. Metab. – 1997 – Vol. 82, N 11 – P. 3885 - 3891.

  23. Gaitan E. Goitrogens in food and water. // Ann. Rev. Nutr. 1990 – Vol. 10 – P. 21 - 39.

  24. Greig W.R., Boyle J.A., Duncan A., et al. Genetic and non-genetic factors goitre formation: evidence from a twin study. // Quart. J. Med. – 1967 – N. 142 – P. 175 – 88.

  25. Heimann P. Familial incidence of thyroid disease and anamnestic incidence of pubertal struma in 449 consecutive struma patients. // Acta Medica Scandinavica – 1966 – Vol. 179, N 1. – P. 113 – 119.

  26. Ieiri T., Cochaux P., Targovnik H.M., et al. A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism // J. Clin. Invest. 1991 – Vol. 88, N 6 – P. 1901 - 1905.

  27. Jenkins M.B., Steffes M.W. Congenital thyroxine binding globulin deficiency: incidence and inheritance // Hum. Genet. – 1987 – Vol. 77, N 1. – P. 80 - 84.

  28. Kamboh M., Kirwood C. Genetic polymorphism of thyroxin-binding globulin (TBG) in the Pacific area et al. // Am. J. Hum. Genet. – 1984 – Vol. 36, N 3. - P. 646 - 654.

  29. Kimura S., Kotani T., McBride O.W., et al. Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs. // Proc. Natl. Acad. Sci. USA – 1987 – Vol. 84, N 16. – P. 5555 - 5559.

  30. Kosugi S., Sato Y., Matsuda A., et al. High prevalence of T354P Sodium/Iodide Symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures. // J. Clin. Endocrinol. Metab. – 1998 – Vol. 83, N 11– P. 4123 - 4129.

  31. Langer P., Tajtakova M., Bohov P., Klimes I. Possible role of genetic factors in thyroid growth rate and in the assessment of upper limit of normal thyroid volume in iodine-replete adolescents. // Thyroid – 1999 – Vol. 9, N 6. – P. 557 - 562.

  32. Ledent C., Parma J., Dumont J., et al. Molecular genetics of thyroid diseases. // Eur. J. Endocrin. – 1994 – Vol. 130, N 1 – P. 8 - 14.

  33. Lever E., Medeiros-Neto G.A., DeGroot L.J. Inherited disorders of thyroid metabolism // Endocrine Reviews – 1983 – Vol. 4, N 3 – P. 213 - 239.

  34. Li P., Janssen O.E., Takeda K; et al. Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. // Metabolism: clinical and experimental – 1991 –Vol. 40, N 11 – P. 1231 - 1234.

  35. Lyons J., Landis C.A, Harsh G., et al. Two G protein oncogenes in human endocrine tumors. // Scence – 1990 – Vol. 249, N 4969 – P. 655 - 659.

  36. Malamos B., Koutras D.A., Kostamis P., et al. Endemic goitre in Greece: a study of 379 twin pairs. // J. Med. Genet. – 1967 – Vol. 4, N 1. – P. 16 – 18.

  37. Matsuda A., Kosugi S. A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. // J. Clin. Endocrinol. Metab. – 1997 – Vol. 82, N 12 – P. 3966 - 3971.

  38. Nagayama Y., Seto P., Rapoport B. Characterization, by molecular cloning, of smaller forms of thyroid peroxidase messenger ribonucleic acid in human thyroid cells as alternatively spliced transcripts. // J. Clin. Endocrinol. Metab. – 1990 – Vol. 71, N 2. – P. 384 - 390.

  39. Parma J., Duprez L., Van Sande J., et al. Diversity and prevalence of somatic mutations in the TSH receptor and Gas genes as a cause of toxic thyroid adenomas. // J. Clin. Endocrinol. Metab. – 1997 – Vol. 82, N 8. – P. 2695 - 2701.

  40. Porcellini A., Ciullo I., Laviola L., et al. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identificatoin by fine needle aspiration biopsy. // J. Clin. Endocrinol. Metab. – 1994 – Vol. 79, N 2. – P. 657 - 661.

  41. Sanchez Franco F., Cacicedo L., Morreale de Escobar G., Escobar del Rey F. Nutrition and iodine versus genetic factors in endemic goiter // J. Endocrinol. Inverst. – 1983 – Vol. 6, N 3 – P. 185 - 188.

  42. Targovnik H.M., Varela V., Frechtel G.D., et al. Molecular genetics of hereditary thyroid disease due to a defect in the thyroglobulin or thyroperoxidase synthesis. // Brasilian J. Med. Biol. Res. – 1994 – Vol. 27, N 12 – P. 2745 - 2757.

  43. Tonacchera M., Van Sande J., Parma J., et al. TSH receptor and disease. // Clin. Endocrinol. – 1996 – Vol. 44 – P. 621 - 633.

  44. Takahashi T., Nozaki J., Komatsu M., et al. A new locus for a dominant form of multinodular goiter on 3q26.1-q26.3. // Biochem. Biophys. Res. Commun. – 2001 – Vol. 284. – P. 650 – 654.

  45. Wolff J. Congenital goiter with defective iodide transport // Endocrinol. Rev. – 1983 – Vol. 4, N 3 – P. 240 - 254.

  46. World Health Organisation: Global prevalence of iodine deficiency disoders. - Geneva, 1994.