Summary
A population cytogenetic study of three groups of rare fragile sites defined in Human Gene Mapping 8 (HGM8, Berger et al. 1985) has been conducted using peripheral blood lymphocytes of healthy Japanese subjects. We have examined 1,022 blood donors for folate-sensitive and bromodeoxyuridine (BrdU)-requiring, and 845 for distamycin A-inducible fragile sites. Out of 17 rare autosomal fragile sites defined in HGM8, the following six were identified in Japan; folate-sensitive fra(2)(q11), fra(11)(q13) and fra(11)(q23), distamycin A-inducible fra(16)(q22) and fra(17)(p12), and BrdU-requiring fra(10)(q25). The incidences of distamycin A-inducible fra(16)(q22) (1.42%) and fra(17)(p12) (3.08%) were considerably higher than those of the other sites in Japan. Furthermore, a folate-sensitive fra(17)(p12) and a distamycin A-inducible fra(8)(q24.1) have been newly found in the present study. Their incidences were 0.10% (1/1,022) and 0.71% (6/845), respectively. Since the expression of this fra(17)(p12) was induced by fluorodeoxyuridine, supressed by thymidine, but not induced by distamycin A, it can be classified as a folate-sensitive site. The expression of the new distamycin A-inducible fra(8)(q24.1) was also enhanced by treatment with Hoechst 33258, berenil and 4′,6-diamidino-2-phenylindole (DAPI). This fragile site fulfils all four classical criteria suggested by Sutherland (1979) and also new criteria for a rare fragile site defined in HGM8 (Berger et al. 1985).
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Amarose AP, Huttenlocher PR, Sprudzs RM, Laitsh TJ, Pettenati MJ (1987) A heritable fragile 12q24.13 seqregating in a family with the fragile X chromosome. Hum Genet 75:4–6
Berger R, Bloomfield CD, Sutherland GR (1985) Report of the committee on chromosome rearrangements in neoplasia and on fragile sites. (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:490–535
Braekeleer M de, Smith B, Lin CC (1985) Fragile sites and structural rearrangements in cancer. Hum Genet 69:112–116
Chodirker BN, Chudley AE, Ray M, Wickstrom DE, Riordan DL (1987) Fragile 19p13 in a family with mental illness. Clin Genet 31:1–6
Croci G (1983) BrdU-sensitive fragile site on long arm of chromosome 16. Am J Hum Genet 35:530–533
ISCN (1981) An international system for human cytogenetic nomenclature. High resolution banding (1981). Birth Defects, no 5
Izakovič V (1984) Homozygosity for fragile site at 17p12 in a 28-year-old healthy man. Hum Genet 68:340–341
Kähkönen M, Leisiti J, Thoden CJ, Autio S (1986) Frequency of rare fragile sites among mentally subnormal school children. Clin Genet 30:234–238
LeBeau MM (1986) Chromosomal fragile sites and cancer-specific rearrangements. Blood 67:849–858
LeBeau MM, Rowley JD (1984) Heritable fragile sites in cancer. Nature 308:607–608
Lejeune J, Dutrillaux B, Lafourcade J, Berger R, Avonyi D, Rethoré MO (1968) Endoréduplication sélective du bras long du chromosome 20 chez une femme et sa fille. CR Acad Sci (Paris) 266:24–26
Murata M, Takahashi E, Ishihara T, Minamihisamatsu M, Takagi T, Kaneko Y, Hori T (1987) Heritable fragile sites and cancer: fra(16)(q22) in lymphocytes of an acute nonlymphocytic leukemia patient with inv(16)(p13q22). Cancer Genet Cytogenet 25:81–86
Petit P, Frynes JP, Berghe H van den, Hecht F (1986) Population cytogenetics of autosomal fragile sites. Clin Genet 29:96–100
Rowley JD (1983) Human oncogene locations and chromosome aberrations. Nature 301:290–291
Sanfilippo S, Neri G, Tedeschi B, Carlo-Stella N, Triolo O, Serra A (1983) Chromosomal fragile sites: preliminary data of a population survey. Clin Genet 24:295
Schmid M, Feichtinger W, Jessberger A, Köhler J, Lange R (1986) The fragile site (16)(q22). I. Induction by AT-specific DNA-ligands and population frequency. Hum Genet 74:67–73
Shabtai F, Hart J, Klar D, Halbrecht I (1986) Familial fragile site found at the cancer breakpoint (1)(q32) Inducibility by distamycin A, concomitance with fragile (16)(q22). Hum Genet 73:232–234
Sutherland GR (1979) Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture. Am J Hum Genet 31:125–135
Sutherland GR (1982a) Heritable fragile sites on human chromosomes. VIII. Prelimiary population cytogenetic data on folicacid-sensitive fragile sites. Am J Hum Genet 34:452–458
Sutherland GR (1982b) Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU-requiring fragile site at 10q25. Am J Hum Genet 34: 753–756
Sutherland GR (1985) Heritable fragile sites on human chromosomes. XII. Population cytogenetics. Ann Hum Genet 49:153–161
Sutherland GR, Hecht F (1985) Fragile sites on human chromosomes. Oxford University Press, New York Oxford
Sutherland GR, Jacky PB, Baker EG (1984) Heritable fragile sites on human chromosomes, XI. Factors affecting expression of fragile sites at 10q25, 16q22, and 17p12. Am J Hum Genet 36:110–122
Takahashi E, Hori T, Murata M (1985a) A BrdU-requiring fragile site, fra(10)(q25), in a Japanese population. Proc Japan Acad 61: 165–168
Takahashi E, Hori T, Murata M (1985b) Distamycin A-induced fragility on chromosome 16, fra(16)(q22), in a Japanese population. Proc Japan Acad 61:299–302
Takahashi E, Hori T, Murata M (1987) A new rare heritable fragile site at 8q24.1 found in a Japanese population. Clin Genet 32 (in press)
Tommerup N, Nielsen J, Mikkelsen M (1985) A folate-sensitive heritable fragile site at 19p13. Clin Genet 27:510–514
Yunis JJ (1983) The chromosome basis of human neoplasia. Science 221:227–236
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Takahashi, Ei., Hori, Ta. & Murata, M. Population cytogenetics of rare fragile sites in Japan. Hum Genet 78, 121–126 (1988). https://doi.org/10.1007/BF00278179
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00278179