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PMID: 6683707 Published · ppublish English Journal Article

Frequency of fragile X chromosomes, fra(X), in lymphocytes in relation to blood storage time and culture techniques.

Human genetics ·Vol. 64 ·No. 1 ·1983-00-00 ·Pages 39-41

Fonatsch C, Schwinger E

Abstract

The fra(X) frequencies in metaphases of lymphocytes from seven male patients with X-linked mental retardation and macroorchidism were scored after use of different culture techniques and different times of blood storage. No statistically significant differences were found between the fra(X) rates of lymphocytes grown either in folic acid deficient medium (TC 199) or in medium containing folic acid as well as a folic acid antagonist (methotrexate: MTX, aminopterine: AP). With respect to the effect of the time interval between blood sampling and culture set-up, a statistically significant decrease in the fra(X) frequency was observed in all culture types after 4 or 7 days of blood storage.

MeSH Terms
Blood Preservation Cells, Cultured Chromosome Fragility Female Gene Frequency Humans Intellectual Disability/genetics Lymphocytes/ultrastructure Male Metaphase Sex Chromosomes/ultrastructure Testis/abnormalities Time Factors X Chromosome/ultrastructure
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Fonatsch C
Schwinger E
References (22)
22 references, click to expand
  1. The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytes.
    Am J Med Genet. 1982 Oct;13(2):139-48 PMID: 6215863
  2. Familial X-linked mental retardation with an X chromosome abnormality.
    J Med Genet. 1977 Feb;14(1):46-50 PMID: 839500
  3. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.
    Science. 1977 Jul 15;197(4300):265-6 PMID: 877551
  4. FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.
    Am J Hum Genet. 1981 Mar;33(2):234-42 PMID: 6452060
  5. Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach.
    Hum Genet. 1981;59(2):166-9 PMID: 7327576
  6. Fragile X chromosome: consistent demonstration of fragile site in fibroblast cultures.
    Lancet. 1982 Jan 9;1(8263):101 PMID: 6119461
  7. Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.
    Hum Genet. 1982;60(4):322-7 PMID: 6955257
  8. Feasibility of fragile X chromosome prenatal diagnosis demonstrated.
    Lancet. 1981 Dec 5;2(8258):1292 PMID: 6118704
  9. Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.
    Clin Genet. 1981 Feb;19(2):101-10 PMID: 7193540
  10. Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation.
    Hum Genet. 1980 Feb;53(2):267-9 PMID: 6928413
  11. 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.
    J Med Genet. 1981 Oct;18(5):374-6 PMID: 6460104
  12. Prenatal detection of a fetus hemizygous for the fragile X-chromosome.
    Hum Genet. 1982;62(3):285-6 PMID: 7169221
  13. Marker X chromosome induction in fibroblasts by FUdR.
    Am J Med Genet. 1981;9(3):263-4 PMID: 6456666
  14. Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.
    Am J Hum Genet. 1979 Mar;31(2):125-35 PMID: 36752
  15. A simple method to demonstrate the fragile X chromosome in fibroblasts.
    Hum Genet. 1981;59(2):186 PMID: 7035336
  16. Constitutional chromosomal breakage.
    Hum Genet. 1976 Oct 28;34(2):125-36 PMID: 1033912
  17. Expression of the marker (X) (q28) in lymphoblastoid cell lines.
    Am J Hum Genet. 1982 Jul;34(4):552-7 PMID: 6213152
  18. Fragile sites in human chromosomes I. The effect of methionine on the Xq fragile site.
    Clin Genet. 1981 Apr;19(4):228-32 PMID: 6944163
  19. X-linked mental retardation: a study of 7 families.
    Am J Med Genet. 1980;7(4):471-89 PMID: 7211957
  20. A marker X chromosome.
    Am J Hum Genet. 1969 May;21(3):231-44 PMID: 5794013
  21. Marker X chromosomes, mental retardation and macro-orchidism.
    N Engl J Med. 1978 Dec 28;299(26):1472 PMID: 714140
  22. X-linked mental retardation with macro-orchidism and marker X chromosomes.
    Hum Genet. 1979 Sep;50(3):247-51 PMID: 489008
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1983-00-00
Pages
39-41
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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