Skip to main content
Log in

A new polymorphism of thyroxin-binding globulin in three African groups (Mali) with endemic nodular goitre

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

The thyroxin-binding globulin (TBG) polymorphism was investigated in three African groups: two belonged to the Bwa villages of Mali, and the third was a Dogon group living in the same area. The Bwa groups were characterized by the occurrence of nodular goitres, whereas the Dogon population did not show similar pathological symptoms. Females were more affected by goitre than males in the affected villages. The TBG polymorphism enabled us to demonstrate the presence of an undescribed allele (TBG C1) in these populations. The frequency of the TBG S allele was also higher than previously published in other African groups. We observed a disequilibrium in the distribution of the C and S alleles in the population, with an excess of homozygous TBG S individuals. No clear relationship between the TBG polymorphism and the number of nodules can be drawn.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Bayoumi RA, Taha TSM, Saha N (1988) Study of possible genetic predisposition to endemic goitre among the Fur and Baggara tribes of the Sudan. Hum Hered 38:8–11

    Google Scholar 

  • Bellis G, Chaventre A, Roux F, Bisset JP, Sammartino AE, Chastin I, Rhaly AA (1988) Measurements of endemic cretinism in the Bwa region. Mali Coll Anthropol 12:237–245

    Google Scholar 

  • Carpon J (1973) Communautés villageoises Bwa, Mali, HauteVolta, Institut d'ethnologie, Musée de l'Homme, Paris

    Google Scholar 

  • Chaventre A, Rhaly AA, Roux F, Borot N, Bisset JP, Monier C, Fongoro S, Bellis G, Sarma C (1986) Etude du goitre endémique en pays Bwa (Mali) In: Le Monnier D, Ingenbluk Y (eds) Les malnutritions dans les pays du Tiers Monde. Colloque INSERM 136:419–436

  • Cheng SY (1977) Patrial amino acid sequence of human thyroxine binding globulin. Further evidence for a single polypeptide chain. Biochem Biophys Res Commun 79:1212–1218

    Google Scholar 

  • Constans J, Gouallard C, Huchenq A, Ribouchon MT (1987) Immunotransfert passif sur gel de polyacrylamide apres focalisation isoelectrique (IEF) et en gradient de pH immobilisé. Rev Inst Pasteur Lyon 20:205–210

    Google Scholar 

  • Costante G, Sand G, Glindoer D (1982) Characterization of desialylated human thyroxine-binding globulin by immunochemical techniques. Arch Int Physiol Biochim 90:B177–178

    Google Scholar 

  • Daiger S, Wildin RS (1981) Human thyroxine binding globulin (TBG): heterogeneity within individuals and among individuals demonstrated by isoelectric focusing. Biochem Genet 19:673–685

    Google Scholar 

  • Daiger SP, Rummel DP, Wang L, Cavalli-Sforza LL (1981) Detection of genetic variation with radioactive ligands. X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG) Am J Hum Genet 33:640–648

    Google Scholar 

  • Davolli C, Grimaldi S, Rusca G, Andreoli M, Edelhoch H (1982) The isoelectric focusing of human thyroglobulin. Biochim Biophys Acta 705:243–248

    Google Scholar 

  • Dormitzer PR, Ellison PT, Hode HH (1989) Anomalously low endemic goiter prevalence among Efe Pygmies. Am J Physiol Anthropol 78:527–531

    Google Scholar 

  • Farriaux JP, Lefebvre J, Amedee-Manesme O, Vanderwale B, Ardouin P, Dhondt JL (1982) Le déficit en TBG: à propos de 46 observations familiales. Med et Hyg 40:576–582

    Google Scholar 

  • Flink IL, Bailey TJ, Gustafson TA, Markhan BE, Morkin E (1986) Complete amino acid sequence of human thyroxine binding globuin deduced from cloned DNA: close homology to the serine antiproteases. Proc Natl Acad Sci USA 83:7708–7712

    Google Scholar 

  • Freire-Maia A, Freire-Maia DV, Morton NE (1982) Epidemiology and genetics of endemic goiter. II. Genetics aspects. Hum Hered 32:176–180

    Google Scholar 

  • Gartner R, Bechtner G, Greil W, Horn K, Pickardt CR (1985) Characterization of microheterogeneity of human thyroglobulin from different thyroid disorders. Acta Endocrinol 109:76–82

    Google Scholar 

  • Grimaldi S, Bartalena L, Ramacciotti C, Robbins J (1983) Polymorphism of human thyroxine binding globulin. J Clin Endocrinol Metab 57:1186–1192

    Google Scholar 

  • Grimaldi S, Bartalena L, Carlini T, Robbins J (1986) Purification and partial characterization of a novel thyroxine binding protein (27k protein) from human plasma. Endocrinology 118:2362–2369

    Google Scholar 

  • Jenkins M, Steffes MW (1987) Congenital thyroxine-binding globulin deficiency: incidence and inheritance. Hum Genet 77:80–84

    Google Scholar 

  • Kamboh MI, Ferrell RE (1986) A sensitive immunoblotting technique to identify thyroxin-binding globulin protein heterogeneity after isoelectricfocusing. Biochem Genet 24:273–280

    Google Scholar 

  • Kamboh MI, Kirwood C (1984) Genetic polymorphism of thyroxine-binding globulin (TBG) in the Pacific area. Am J Hum Genet 36:646–654

    Google Scholar 

  • Kollind M, Iselius L, Pettersson T, Adamson U, Carlstrom A (1985) Genetics and clinical significance of thyroxine-binding globulin deficiency, an analysis of seven families. Acta Endocrinol 109:83–89

    Google Scholar 

  • Konno N, Kakinoki A, Miura K, Hagiwara K, Taguchi J, Minami R (1985) Serum concentration of unsaturated thyroxine-binding globulin in hyper and hypothyroidism. Clin Endocrinol 22:249–255

    Google Scholar 

  • Lasne Y, Lasne F, Benzerara O (1980) Microheterogeneity and polymorphism of human serum thyroxine-binding globulin. Study by isoelectric focusing and radioprint immunofixation. Biochim Biophys Acta 624:333–339

    Google Scholar 

  • Lasne F, Benzerara O, Lasne Y (1982) Role of sialic acid in the microheterogeneity of serum thyroxine-binding globulin. Study by two dimensional isoelectric focusing. Biochim Biophys Acta 703:49–53

    Google Scholar 

  • Medeiros-Neto GA, Knobel M, Cavaliere H, Simonetti J, Mattar E (1984) Hereditary congenital goitre with thyroglobulin deficiency causing hypothyroidism. Clin Endocrinol 20:631–642

    Google Scholar 

  • Murata Y, Refetoff S, Same DH, Dick M, Watson F (1985) Variant of thyroxine binding globulin in serum of Australian aborigines: its physical, chemical and biological properties. J Endocrinol Invest 8:225–232

    Google Scholar 

  • Murata Y, Takamatsu J, Refetoff S (1986a) Inherited abnormality of thyroxin binding globulin with no demonstrable thyroxin binding activity and high serum levels of denatured thyroxin binding globulin. N Engl J Med 314:694–699

    Google Scholar 

  • Murata Y, Magner JA, Refetoff S (1986b) The role of glycosylation in the molecular conformation and secretion of thyroxinbinding-globulin. Endocrinology 118:1614–1621

    Google Scholar 

  • Rasilly B de (1965) Bwa Iaada: coutumes et croyances Bwa. Bull IFAN 27:99–154

    Google Scholar 

  • Sanchez FF, Cacicedo L, Morreale de Escobar G, Escobar del Rey F (1983) Nutrition and iodine versus genetic factors in endemic goitre. J Endocrinol Invest 6:185–188

    Google Scholar 

  • Same DH, Refetoff S, Murata Y, Dick M, Watson F (1985) Variant of thyroxin-binding globulin in serum of Australian Aborigines: a comparison with familial TBG deficiency in Caucasians and American blacks. J Endocrinol Invest 8:217–224

    Google Scholar 

  • Strel'chyonok OA, Avvakumov GV, Akhrem AA (1984) Pregnancy associated molecular variants of human serum transcortin and thyroxine-binding globulin. Carbohydr Res 134:133–140

    Google Scholar 

  • Takeda K, Mori Y, Sobieszczyk S, Seo H, Dick M, Watson F, Flink IL, Seino S, Bell GI, Refetoff S (1989) Sequence of the variant thyroxine binding globulin of Australian Aborigines. J Clin Invest 83:1344–1348

    Google Scholar 

  • Trent JM, Flink IL, Morkin E, Van Tuinen P, Ledbetter DH (1987) Localization fo the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21–22) Am J Hum Genet 41:428–435

    Google Scholar 

  • Whitehouse DB, Hopkinson DA, Hill AVS, Bowden DK (1985) Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing. Ann Hum Genet 49:259–265

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

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 89, 199–203 (1992). https://doi.org/10.1007/BF00217123

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00217123

Keywords

Navigation