Analysis of Fra-X Gene Using Hair Root DNA

  • Lee, Ju-Young (Department of Biology, College of Natural Sciences, Pusan National University) ;
  • Choi, Won-Chul (Department of Beauty Arts, Seokyeong University)
  • Published : 2006.12.30

Abstract

Extract of DNA for analysis of fragile X syndrome is usually performed by blood, the researches using hair root as specimen have been gradually spread. In this study, analyze fra X gene of the patients in mentally retarded children facilities was conducted using hair root DNA with molecular biologic test (PCR). The number of total subjects was 24, boys were 12, the average age was $17({\pm}3)$, and girls were 12, the average age was $18({\pm}2)$. In girls, normal size of band of 222 bp appeared in all lanes. Also, in all lanes except control in 517 bp, micro band appeared. Moreover, with appearance of band of 1198bp in lanes 2, 3, 4, 5, it is estimated that it is the band of full mutation whose CGG repeated sequences are more than 200. But it showed the peculiarity that it appeared with normal band in all the same lanes, thus it is not reasonable to judge it is the band of full mutation and further studies are needed. These results appeared in 50%, 6 of 12 mentally retarded girls. As the result of mentally retarded boys, normal band appeared in about 222 bp in control, however in experiment group, normal band did not appear. In 43%, 7 out of 12 boys, band did not either appeared in 1198bp, which showed different patterns from that of girls.

Keywords

References

  1. Gratler, S.M., Gandini, E., Angioni, G. and Argiolas, N. : Glucose 6 phosphate dehydrogenase mosaicism ; utilization as a cancer in the study of the development of hair root cells. Hum. Genat., 33, 171-176, 1969 https://doi.org/10.1111/j.1469-1809.1969.tb01642.x
  2. Gratler, S.M., Scott, R.C. and Goldstein, J.L. : Lashnyhan Syndrome; rapid detection of heterozygote by use of hair follicles. Science, 172, 572-574, 1971 https://doi.org/10.1126/science.172.3983.572
  3. Vermorken, A.J., Weterings, P.J. and Spierbnburg, G.T. : Fabry's disease ; biochemical and histochemical studise on hair roots for carrier detection. Br. J. Dermatolo., 98, 191-196, 1987
  4. Verkerk, A.J., Pierertt, M., Sutclilfe, J.S. and Fu, Y.H. : Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting lengh variation in fragele x sysdrome. Cell, 65, 905-914, 1991 https://doi.org/10.1016/0092-8674(91)90397-H
  5. Yu, S., Pertchard, M. and Kremer, E. : Fragile x genotype characterized by an unstable regin of DNA. Science, 252, 1179-1181, 1991 https://doi.org/10.1126/science.252.5009.1179
  6. Oberle, I., Rousseau, F. and Heitz, S. : Instability of a 550-base pair DNA segment and abnormal methylation in fragile x syndrome. Secience, 252, 1097-102, 1991 https://doi.org/10.1126/science.252.5009.1097
  7. Fu, Y.H. and Kuhl, D.P. : Variation of the CGG repeat at the fragile X results in genetic instability: resolution of the sherman paradox. Cell, 67, 1047-1058, 1991 https://doi.org/10.1016/0092-8674(91)90283-5
  8. Heitz, D. and Devys, D. : Inheritance of the fragile X syndrome; size of the fragile X permutation is a major determinent of the transition to full mutation. J. Med. Genet., 29, 794-801, 1992 https://doi.org/10.1136/jmg.29.11.794
  9. Camp, B.W., Broman, S.H., Nichols, P.L. and Leff, M. : Maternal and neonatal risk factors for mental retardation : defining the 'at-risk' child. Early Human Development, 50, 159-173, 1998 https://doi.org/10.1016/S0378-3732(97)00034-9
  10. Rob Willemsen : Burcu Anar. and Yolande De Diego Otero. Noninvasive test for fragile X syndrome, Using Hair Root Analysis. Am. J. Hum. Genet. 65. 98-103, 1999 https://doi.org/10.1086/302462
  11. Chung, E.R., Kim, W.T., Kim, Y.S. and Han, S.K. : Identification of Hanwoo meat and analysis of poiymorphism of Bovine MCIR gene using PCRSSCP technique. J. Animal. Sci. and Technol.(Kor.). 43(1), 45-52, 2001
  12. Lee, S. S., Yang, B.S., Jung, J.K., Ko, S.B., Oh, S.J., Yang, Y.H. and Kim, K.I. : Comparison of the genotypes of melancortin receptor (MCIR) gene in korea-native and chinese-native pigs. J. Animal. Sci. and Technol.(Kor.), 42(3), 253-260, 2000
  13. Lee, J.Y. and Choi, W.C. : Analysis of minerals in the Hair of Mental Retardation. Kor. J. Env, Hlth., 31(3), 187-191, 2005
  14. Luciana A Haddad, Regine C, Mingroni Netto and Angela M. : A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males. Hum Genet. 97, 808-812, 1996 https://doi.org/10.1007/BF02346194
  15. Pieretti, M., Zhang, F. and Fu, Y.H. : Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 66, 817-825, 1991 https://doi.org/10.1016/0092-8674(91)90125-I
  16. Thake, A., Todd, J., Webb, T. and Bundey, S. : Children with the fragile X chromosome at schools for the mildly mentally retarded. Dev. Med. Child Neurol. 29, 711-719, 1987 https://doi.org/10.1111/j.1469-8749.1987.tb08815.x
  17. Kahkonen, M. and Alitalo, T. : Prevalence of the fragile X syndrome in four birth cohorts of children of school age. Hum. Genet., 77, 85-87, 1987
  18. Tumer, G., Webb, T., Wake, S. and Robinson, H. : Prevalence of fragile x syndrome. Ameri. J. Med Genet., 64, 196-197. 1996 https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G
  19. Slaney, S.F., Wilklie, A.O., Hirst, M.C., Charlton, R., Mckinley, M. and Pointon, Jet. : A testing for fragile X syndrome in schools for leaning difficulties. Arch Dis Child., 72, 33-37, 1995 https://doi.org/10.1136/adc.72.1.33
  20. Murray, A., Youings, S., Dennis, N. and Latsky, L. : Population screening at the FRAXA and FRAXE loci. Molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet., 5, 727-35, 1996 https://doi.org/10.1093/hmg/5.6.727
  21. Moon, H.R. and Moon, S.Y. : Fragile site x chromosomes in mentally retarded boys. J. Korean Med. Sci., 8, 192-196, 1993 https://doi.org/10.3346/jkms.1993.8.3.192
  22. Kim, G.J., Kim, S.Y. and Hwang, B.C. : Prenatal dignosis of fragile X syndrome using amniotic fluid DNA. Korea Society of Obstetrics and Gynecology, 44(3), 559-564, 2001
  23. Choi, Y.M., Hwang, D.Y. and Jun, J.K. : Incidence of Fragile X Syndrome in Koera Patients with Mental Retardation. Korea Society of Obstetrics and Gynecology, 42(11), 2458-2463, 1999
  24. Koh, K.S., Jun, J.K. and Choi, J.N. : Preliminary results from a case-control study on resk factors of mental retardation. Korea Society of Obstetrics and Gynecology, 42(5), 1035-1041, 1999