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PMID: 6232199 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28. Results of folic acid treatment on fra(X) expression.

Human genetics ·Vol. 66 ·No. 2-3 ·1984-00-00 ·Pages 225-9

Nielsen KB, Tommerup N

Abstract

Lymphocyte cultures from 27 mentally retarded males aged 1 year to 77 years, and from 11 normal brothers from a total of 14 families with the fragile X segregating have been examined cytogenetically employing three different culture methods including methods for induction of fra(X) by FUdR (flourodeoxyuridine) or MTX (methotrexate). All mentally retarded males showed unequivocal fra(X) expression. No statistically significant correlation between fra(X) expression and age could be demonstrated. No enhancement with FUdR was observed. Fibroblast cultures from 10 retarded males expressed fra(X) in a dose-response relationship to increasing concentrations of FUdR. None of the normal males showed fra(X). In vivo folic acid treatment of seven mentally retarded males resulted in marked reduction in fra(X) expression in lymphocyte cultures grown in medium 199. However, reinduction was achieved by FUdR or MTX, except in one case who temporarily received very high doses of folic acid.

MeSH Terms
Adolescent Adult Bromodeoxyuridine/pharmacology Cells, Cultured Child Child, Preschool Chromosome Fragile Sites Chromosome Fragility Female Fibroblasts/ultrastructure Floxuridine/pharmacology Folic Acid/pharmacology,therapeutic use Gene Expression Regulation Genetic Markers Humans Infant Intellectual Disability/drug therapy,genetics Lymphocytes/ultrastructure Male Methotrexate/pharmacology Middle Aged X Chromosome
Chemicals
Genetic Markers Floxuridine Folic Acid Bromodeoxyuridine Methotrexate
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Nielsen K B
Tommerup N
References (34)
34 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00286606
Published
1984-00-00
Pages
225-9
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00286606 View journal details
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