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. 1995 Feb;32(2):120–124. doi: 10.1136/jmg.32.2.120

DNA analysis of Huntington's disease in southern Chinese.

V Chan 1, Y L Yu 1, T P Chan 1, B Yip 1, C M Chang 1, M T Wong 1, Y W Chan 1, T K Chan 1
PMCID: PMC1050233  PMID: 7760321

Abstract

Allelic frequencies of RFLPs at loci closely linked to the HD gene, D4S95, D4S91, D4S141, and D4S90, were determined in 13 Huntington's disease (HD) patients from nine Chinese families and 129 normal subjects. These were similar for non-HD and HD chromosomes and the HD gene in Chinese is associated with multiple haplotypes. Hence the HD gene probably arose independently in the background haplotypes of the Chinese population. The heterozygosity rates for the two most useful RFLP sites are 0.659 for D4S95-AccI VNTR and 0.494 for D4S141-HindIII. (CAG)n repeat numbers ranged from 12 to 27 in 174 normal chromosomes. In 52 meiotic recombinations, the (CAG)n repeats were stably inherited in normal families. In HD families, 12 of 13 HD patients had expanded (CAG)n repeats of 40 to 58. Additionally, 10 asymptomatic family members had expanded (CAG)n repeats and the inheritance of the expanded repeat was unstable in these families.

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Selected References

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  1. Chan V., Chan T. K., Chebab F. F., Todd D. Distribution of beta-thalassemia mutations in south China and their association with haplotypes. Am J Hum Genet. 1987 Oct;41(4):678–685. [PMC free article] [PubMed] [Google Scholar]
  2. Chan V., Chan T. K., Liu V. W., Wong A. C. Restriction fragment length polymorphisms associated with factor VIII:C gene in Chinese. Hum Genet. 1988 Jun;79(2):128–131. doi: 10.1007/BF00280550. [DOI] [PubMed] [Google Scholar]
  3. Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387–392. doi: 10.1038/ng0893-387. [DOI] [PubMed] [Google Scholar]
  4. Frontali M., Malaspina P., Rossi C., Jacopini A. G., Vivona G., Pergola M. S., Palena A., Novelletto A. Epidemiological and linkage studies on Huntington's disease in Italy. Hum Genet. 1990 Jul;85(2):165–170. doi: 10.1007/BF00193190. [DOI] [PubMed] [Google Scholar]
  5. Goossens M., Kan Y. Y. DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol. 1981;76:805–817. doi: 10.1016/0076-6879(81)76159-7. [DOI] [PubMed] [Google Scholar]
  6. Gusella J. F., Wexler N. S., Conneally P. M., Naylor S. L., Anderson M. A., Tanzi R. E., Watkins P. C., Ottina K., Wallace M. R., Sakaguchi A. Y. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. doi: 10.1038/306234a0. [DOI] [PubMed] [Google Scholar]
  7. Kanazawa I., Kondo I., Ikeda J. E., Ikeda T., Shizu Y., Yoshida M., Narabayashi H., Kuroda S., Tsunoda H., Mizuta E. Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families. Hum Genet. 1990 Aug;85(3):257–260. doi: 10.1007/BF00206741. [DOI] [PubMed] [Google Scholar]
  8. Kremer B., Squitieri F., Telenius H., Andrew S. E., Theilmann J., Spence N., Goldberg Y. P., Hayden M. R. Molecular analysis of late onset Huntington's disease. J Med Genet. 1993 Dec;30(12):991–995. doi: 10.1136/jmg.30.12.991. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. MacDonald M. E., Barnes G., Srinidhi J., Duyao M. P., Ambrose C. M., Myers R. H., Gray J., Conneally P. M., Young A., Penney J. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet. 1993 Dec;30(12):982–986. doi: 10.1136/jmg.30.12.982. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. MacDonald M. E., Novelletto A., Lin C., Tagle D., Barnes G., Bates G., Taylor S., Allitto B., Altherr M., Myers R. The Huntington's disease candidate region exhibits many different haplotypes. Nat Genet. 1992 May;1(2):99–103. doi: 10.1038/ng0592-99. [DOI] [PubMed] [Google Scholar]
  11. MacMillan J. C., Snell R. G., Tyler A., Houlihan G. D., Fenton I., Cheadle J. P., Lazarou L. P., Shaw D. J., Harper P. S. Molecular analysis and clinical correlations of the Huntington's disease mutation. Lancet. 1993 Oct 16;342(8877):954–958. doi: 10.1016/0140-6736(93)92002-b. [DOI] [PubMed] [Google Scholar]
  12. Martin J. B., Gusella J. F. Huntington's disease. Pathogenesis and management. N Engl J Med. 1986 Nov 13;315(20):1267–1276. doi: 10.1056/NEJM198611133152006. [DOI] [PubMed] [Google Scholar]
  13. Nagafuchi S., Yanagisawa H., Sato K., Shirayama T., Ohsaki E., Bundo M., Takeda T., Tadokoro K., Kondo I., Murayama N. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 1994 Jan;6(1):14–18. doi: 10.1038/ng0194-14. [DOI] [PubMed] [Google Scholar]
  14. Smith B., Skarecky D., Bengtsson U., Magenis R. E., Carpenter N., Wasmuth J. J. Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus. Am J Hum Genet. 1988 Feb;42(2):335–344. [PMC free article] [PubMed] [Google Scholar]
  15. Snell R. G., Lazarou L. P., Youngman S., Quarrell O. W., Wasmuth J. J., Shaw D. J., Harper P. S. Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet. 1989 Nov;26(11):673–675. doi: 10.1136/jmg.26.11.673. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Wasmuth J. J., Hewitt J., Smith B., Allard D., Haines J. L., Skarecky D., Partlow E., Hayden M. R. A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature. 1988 Apr 21;332(6166):734–736. doi: 10.1038/332734a0. [DOI] [PubMed] [Google Scholar]
  17. Wong M. T., Chang P. C., Yu Y. L., Chan Y. W., Chan V. Psychosocial impact of Huntington's disease on Hong Kong Chinese families. Acta Psychiatr Scand. 1994 Jul;90(1):16–18. doi: 10.1111/j.1600-0447.1994.tb01549.x. [DOI] [PubMed] [Google Scholar]
  18. Youngman S., Shaw D. J., Gusella J. F., MacDonald M., Stanbridge E. J., Wasmuth J., Harper P. S. A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. Nucleic Acids Res. 1988 Feb 25;16(4):1648–1648. doi: 10.1093/nar/16.4.1648. [DOI] [PMC free article] [PubMed] [Google Scholar]

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