doi: 10.1136/jmg.17.4.262.
Menkes X linked disease: two clonal cell populations in heterozygotes
- PMID: 7205901
- PMCID: PMC1048566
- DOI: 10.1136/jmg.17.4.262
Item in Clipboard
Menkes X linked disease: two clonal cell populations in heterozygotes
J Med Genet.
1980 Aug.
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.
Similar articles
-
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.J Med Genet. 1980 Aug;17(4):257-61. doi: 10.1136/jmg.17.4.257. J Med Genet. 1980. PMID: 7205900 Free PMC article.
-
Genetic epidemiology of Menkes disease.Genet Epidemiol. 1986;3(4):225-30. doi: 10.1002/gepi.1370030403. Genet Epidemiol. 1986. PMID: 3744020
-
Menkes' X-linked disease: prenatal diagnosis and carrier detection.J Inherit Metab Dis. 1983;6 Suppl 1:59-62. doi: 10.1007/BF01811325. J Inherit Metab Dis. 1983. PMID: 6413776
-
Menkes disease: an X-linked neurological disorder of the copper metabolism.Brain Pathol. 1992 Oct;2(4):351-62. doi: 10.1111/j.1750-3639.1992.tb00711.x. Brain Pathol. 1992. PMID: 1341968 Review.
-
Metallothionein gene regulation in Menkes' disease.Horiz Biochem Biophys. 1986;8:207-56. Horiz Biochem Biophys. 1986. PMID: 3530953 Review.
Cited by
-
Clinical expression of Menkes disease in females with normal karyotype.Orphanet J Rare Dis. 2012 Jan 22;7:6. doi: 10.1186/1750-1172-7-6. Orphanet J Rare Dis. 2012. PMID: 22264391 Free PMC article.
-
Identification of point mutations in 41 unrelated patients affected with Menkes disease.Am J Hum Genet. 1997 Jan;60(1):63-71. Am J Hum Genet. 1997. PMID: 8981948 Free PMC article.
-
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.J Med Genet. 1980 Aug;17(4):257-61. doi: 10.1136/jmg.17.4.257. J Med Genet. 1980. PMID: 7205900 Free PMC article.
-
Menkes disease: recent advances and new aspects.J Med Genet. 1997 Apr;34(4):265-74. doi: 10.1136/jmg.34.4.265. J Med Genet. 1997. PMID: 9138147 Free PMC article. Review. No abstract available.
-
Prenatal diagnosis of inherited metabolic diseases.West J Med. 1993 Sep;159(3):374-81. West J Med. 1993. PMID: 8236980 Free PMC article. Review.
References
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
