Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2

Journal Article · Fri Jan 20 04:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80054-P· OSTI ID:250166

Herrell, S; Novo, F J; Charlton, R ^[1]

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1. Univ. of Cambridge (United Kingdom); and others

A total of YAC clones have been isolated from the region of Xp22.2-p22.3 extending from the amelogenin gene locus to DXS31. Restriction analysis of these clones in association with STS contenting and end clone analysis has facilitated the construction of 6 contigs covering a total of 7 Mb in which 20 potential CpG islands have been located. Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, mental retardation, X-linked ichthyosis, and Kallmann syndrome. The results suggest that (1) the gene for chondrodysplasia punctata must lie between the X chromosome pseudoautosomal boundary (PABX) and DXS1145; (2) a gene for mental retardation lies between DXS1145 and the sequence tagged site GS1; and (3) the gene for ocular albinism type 1 lies proximal to the STS G13. The CpG islands within the YAC contigs constitute valuable markers for the potential positions of genes. Genes found associated with any of these potential CpG islands would be possible candidates for the disease genes mentioned above. 47 refs., 3 figs., 5 tabs.

• OSTI ID: 250166
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 25; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONTIGS
DESIGN
DNA-CLONING
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MENTAL DISORDERS
NUCLEOTIDES
PATIENTS
PROBES
SENSE ORGANS DISEASES
SKELETAL DISEASES
YEASTS