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PMID: 6286461 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The Mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease.

Human genetics ·Vol. 60 ·No. 3 ·1982-00-00 ·Pages 222-6

Hill ME, Davies KE, Harper P, Williamson R

Abstract

A recombinant DNA sequence, lambda RB6, was isolated from a human X chromosome library and shown to be X-specific by hybridisation to DNA from a human-mouse somatic cell hybrid containing X as the only human chromosome. The cloned sequence was located on the long arm distal to Xq13 using a human-mouse somatic cell hybrid containing a partial human X chromosome. DNA samples isolated from control human females were digested with the restriction enzyme MspI, and analysed by "blotting" and hybridisation to the radioactive cloned DNA. Eight of 14 individuals from a random population showed a single hybridising band 7.5 kilobase pairs (kb) in length, but six showed an additional band 10.1 kb in length. DNA from 12 members of a family with X-linked thyroxine-binding globulin deficiency was analysed for the segregation of this polymorphism. The results show that the polymorphism is inherited in a Mendelian fashion, and that the disease locus is not closely linked to the polymorphic site. Such polymorphisms will be useful as markers for chromosome mapping and for the antenatal diagnosis of genetic diseases.

MeSH Terms
Animals Base Sequence Chromosome Mapping DNA/genetics DNA Restriction Enzymes DNA, Recombinant Female Genetic Diseases, Inborn/genetics Genetic Linkage Humans Hybrid Cells Male Mice Pedigree Polymorphism, Genetic Sex Chromosomes Thyroxine-Binding Proteins/deficiency X Chromosome
Chemicals
DNA, Recombinant Thyroxine-Binding Proteins DNA DNA Restriction Enzymes
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Hill M E
Davies K E
Harper P
Williamson R
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22 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00303007
Published
1982-00-00
Pages
222-6
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00303007 View journal details
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