Abstract
The 64Cu incorporation into fibroblast clones obtained from three obligate and three suspected Menkes disease heterozygotes was studied. For each obligate heterozygote, two clonal cell populations were observed, one with a Menkes phenotype and one with a normal phenotype, as predicted by the Lyon hypothesis. The cloning results suggested a heterozygous state in two of the suspected carriers. The theoretical and practical limitation of the cloning method for identification of carriers of X linked diseases are discussed.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Collie W. R., Moore C. M., Goka T. J., Howell R. R. Pili torti as marker for carriers of Menkes disease. Lancet. 1978 Mar 18;1(8064):607–608. doi: 10.1016/s0140-6736(78)91051-6. [DOI] [PubMed] [Google Scholar]
- Danks D. M., Campbell P. E., Stevens B. J., Mayne V., Cartwright E. Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics. 1972 Aug;50(2):188–201. [PubMed] [Google Scholar]
- Danks D. M., Cartwright E., Stevens B. J., Townley R. R. Menkes' kinky hair disease: further definition of the defect in copper transport. Science. 1973 Mar 16;179(4078):1140–1142. doi: 10.1126/science.179.4078.1140. [DOI] [PubMed] [Google Scholar]
- Goka T. J., Howell R. R. Copper metabolism in Menkes disease. Monogr Hum Genet. 1978;10:148–155. doi: 10.1159/000401584. [DOI] [PubMed] [Google Scholar]
- Hook E. B. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet. 1977 Jan;29(1):94–97. [PMC free article] [PubMed] [Google Scholar]
- Horn N., Heydorn K., Damsgaard E., Tygstrup I., Vestermark S. Is Menkes syndrome a copper storage disorder? Clin Genet. 1978 Sep;14(3):186–187. doi: 10.1111/j.1399-0004.1978.tb02128.x. [DOI] [PubMed] [Google Scholar]
- Horn N., Jensen O. A. Menkes syndrome: subcellular distribution of copper determined by an ultrastructural histochemical technique. Ultrastruct Pathol. 1980 Apr-Jun;1(2):237–242. doi: 10.3109/01913128009141420. [DOI] [PubMed] [Google Scholar]
- Horn N. Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. J Med Genet. 1980 Aug;17(4):257–261. doi: 10.1136/jmg.17.4.257. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Horn N. Praenatal diagnostik af Menkes' sygdom. Ugeskr Laeger. 1979 Nov 19;141(47):3220–3222. [PubMed] [Google Scholar]
- Keydorn K., Damsgaard E., Horn N., Mikkelsen M., Tygstrup I., Vestemark S., Weber J. Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease. Humangenetik. 1975 Sep 10;29(2):171–175. doi: 10.1007/BF00430357. [DOI] [PubMed] [Google Scholar]
- LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
- LYON M. F. Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet. 1962 Jun;14:135–148. [PMC free article] [PubMed] [Google Scholar]
- MENKES J. H., ALTER M., STEIGLEDER G. K., WEAKLEY D. R., SUNG J. H. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962 May;29:764–779. [PubMed] [Google Scholar]
- Volpintesta E. J. Menkes kinky hair syndrome in a black infant. Am J Dis Child. 1974 Aug;128(2):244–246. doi: 10.1001/archpedi.1974.02110270118024. [DOI] [PubMed] [Google Scholar]
- Yao S. T., Gourmos C., Hobbs J. T. Detection of proximal-vein thrombosis by Doppler ultrasound flow-detection method. Lancet. 1972 Jan 1;1(7740):1–4. doi: 10.1016/s0140-6736(72)90001-3. [DOI] [PubMed] [Google Scholar]