Detection of Genetic Variation with Radioactive Ligands. IV. X-linked, Polymorphic Genetic Variation of Thyroxin-binding Globulin (TBG)

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1981 Jul 1

PMID 6789676

Citations 14

Authors

S P Daiger

D P Rummel

L Wang

L L Cavalli-Sforza

Affiliations

Soon will be listed here.

Abstract

A genetically determined, polymorphic electrophoretic variant of thyroxin-binding alpha-globulin (TBG) is found in sera from populations of African and Oceania origin, although not in Caucasians nor Orientals. The TBG polymorphism is inherited in X-linked fashion, based on data from American blacks, and thus provides an X-chromosome marker with a relatively high gene frequency in this ethnic group (frequency of the slow allele, TBGs, is 11%). This slow variant should prove valuable in expanding the map of the X chromosome and in linkage studies. An additional family exhibiting X-linked TBG deficiency is also described.

Citing Articles

Studies on thyroxine-binding globulin.

Bartalena L J Endocrinol Invest. 1993; 16(5):353-71.

PMID: 8320428 DOI: 10.1007/BF03348858.

Human thyroxine-binding globulin (TBG): heterogeneity within individuals and among individuals demonstrated by isoelectric focusing.

Daiger S, Wildin R Biochem Genet. 1981; 19(7-8):673-85.

PMID: 6794564 DOI: 10.1007/BF00484000.

Genetic polymorphism of thyroxin-binding globulin (TBG) in the Pacific area.

Kamboh M, Kirwood C Am J Hum Genet. 1984; 36(3):646-54.

PMID: 6428221 PMC: 1684445.

X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG) in baboons and screening of additional primates.

Lockwood D, Coppenhaver D, Ferrell R, Daiger S Biochem Genet. 1984; 22(1-2):81-8.

PMID: 6424646 DOI: 10.1007/BF00499288.

Variant thyroxine-binding globulin in serum of Australian aborigines: its physical, chemical and biological properties.

Murata Y, Refetoff S, Sarne D, Dick M, Watson F J Endocrinol Invest. 1985; 8(3):225-32.

PMID: 3928734 DOI: 10.1007/BF03348482.

References

Freeman T, Pearson J . The use of quantitative immunoelectrophoresis to investigate thyroxine-binding human serum proteins. Clin Chim Acta. 1969; 26(2):365-8. DOI: 10.1016/0009-8981(69)90394-5. View

Fialkow P, GIBLETT E, Musa B . Increased serum thyroxine-binding globulin capacity: inheritance and linkage relationships. J Clin Endocrinol Metab. 1970; 30(1):66-70. DOI: 10.1210/jcem-30-1-66. View

Premachandra B, PERLSTEIN I, BLUMENTHAL H . Studies on obesity. II. Slow-moving thyroxine binding globulin in the sera of normal and obese subjects. J Clin Endocrinol Metab. 1970; 30(6):752-62. DOI: 10.1210/jcem-30-6-752. View

NUSYNOWITZ M, Clark R, Strader 3rd W, ESTRIN H, Seal U . Thyroxine-binding globulin deficiency in three families, and total deficiency in a normal woman. Am J Med. 1971; 50(4):458-64. DOI: 10.1016/0002-9343(71)90335-4. View

Davis P, Gregerman R . Separation of thyroxine-binding proteins in human serum at pH 7.4. II. Effect of pH and temperature on the bindng capacities of thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA). J Clin Endocrinol Metab. 1971; 33(4):699-708. DOI: 10.1210/jcem-33-4-699. View

Refetoff S, Robin N, Alper C . Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. J Clin Invest. 1972; 51(4):848-67. PMC: 302199. DOI: 10.1172/JCI106880. View

Kobberling J, Emrich D . The genetic polymorphism of the thyroxine-binding globulin (TBG). Humangenetik. 1972; 14(2):85-94. DOI: 10.1007/BF00273290. View

Marshall J, Pensky J, Green A . Studies on human thyroxine-binding globulin. VI. The nature of slow thyroxine-binding globulin. J Clin Invest. 1972; 51(12):3173-81. PMC: 332999. DOI: 10.1172/JCI107144. View

LEIBA S, Landau B, BER A, Adam A, Sterling K . Thyroxine-binding-globulin (T.B.G.) deficiency and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in the same family. J Clin Endocrinol Metab. 1974; 38(4):569-73. DOI: 10.1210/jcem-38-4-569. View

10.

Verbruggen . Quantitative immunoelectrophoretic methods: a literature survey. Clin Chem. 1975; 21(1):5-43. View

11.

Refetoff S, Fang V, Marshall J . Studies on human thyroxine-binding globulin (TBG). IX. Some physical, chemical, and biological properties of radioiodinated TBG and partially desialylated TBG. J Clin Invest. 1975; 56(1):177-87. PMC: 436568. DOI: 10.1172/JCI108066. View

12.

Cavalli-Sforza L, Daiger S, Rummel D . Detection of genetic variation with radioactive ligands. I. Electrophoretic screening of plasma proteins with a selected panel of compounds. Am J Hum Genet. 1977; 29(6):581-92. PMC: 1685497. View

13.

Ferrell R, Nunez A, Bertin T, Labarthe D, Schull W . The blacks of Panama: their genetic diversity as assessed by 15 inherited biochemical systems. Am J Phys Anthropol. 1978; 48(3):269-75. DOI: 10.1002/ajpa.1330480302. View

14.

Hocman G . Human thyroxine-binding globulin. Isolation and chemical properties. II. Properties. Int J Biochem. 1978; 9(5):295-8. DOI: 10.1016/0020-711x(78)90100-3. View

15.

Fisher D, Dussault J, Foley Jr T, Klein A, LaFranchi S, Larsen P . Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr. 1979; 94(5):700-5. DOI: 10.1016/s0022-3476(79)80133-x. View