Biopolym. Cell. 1995; 11(6):104-107.
CGG repeats polymorphism of FMR-1 gene in healthy women and mothers of probands with Fragile X syndrome from Ukraine
1Malarchuk S. G., 1Livshits L. A., 2Bychkova A. M., 1Kravchenko S. A.
- Institute of Molecular Biology and Genetics, NAS of Ukraine
150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680 - Ukrainian Center of Medical Genetics, Health Ministry of Ukraine
Kiev, Ukraine
Abstract
The analysis of CGG repeats polymorphisms from 5'-untranslated region of the FMR-1 gene in 18 mothers of probands with fragile X syndrome and among 46 healthy women from Ukraine was performed. Number of CGG repeats in healthy women is shown to vary in range from 23 to 35 repeals. The allels with CGG expansion corresponding to premutation were revealed in two mothers of probands.
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References
[1]
McKusick VA, Francomano CA., Antonarakis SE. Mendelian Inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenolypes. Baltimore: The Johns Hopkins Univ. press, 1990: 1670-1673.
[2]
Webb TP, Bundey SE, Thake AI, Todd J. Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet. 1986;23(1-2):573-80.
[3]
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65(5):905-14.
[4]
Richards RI, Sutherland GR. Dynamic mutations: a new class of mutations causing human disease. Cell. 1992;70(5):709-12. Review.
[6]
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991;67(6):1047-58.
[7]
Warren ST, Nelson DL. Advances in molecular analysis of fragile X syndrome. JAMA. 1994;271(7):536-42. Review.
[8]
Wehnert M, Herrmann FH, Metzke H, Thiele H, Vogel G, Kuhnert W, Ebener U, Wulff K. Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany. Z Gesamte Inn Med. 1988;43(16):441-4.
[9]
Brown WT, Houck GE Jr, Jeziorowska A, Levinson FN, Ding X, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA. 1993;270(13):1569-75. Erratum in: JAMA 1994 Jan 5;271(1):28.
[10]
Maniatis T., Fritsch E. F., Sambrook J. Molecular cloning: a laboratory manual New York: Cold Spring Harbor Lab. publ., 1982 545 p.
[11]
Zhivotovsky LA Statistical methods for analysis of gene frequencies in natural populations. Theoretical population genetics. VINITI, 1983: 76-104. (Results of Science and Technology. Ser. General genetics; Vol. 8)
