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Nucleic Acids Research, 1990, Vol. 18, No. 3 471-476
© 1990

MOLECULAR BIOLOGY

A VNTR immediately adjacent to the human pseudoautosomal telomere

C.F. Inglehearn and H.J. Cooke1

Department of Human Genetics, Newcastle University, Western General Hospital Edinburgh, UK 1MRC Human Genetics Unit, Western General Hospital Edinburgh, UK

Received November 2, 1989. Accepted November 22, 1989.

The probe 29C1 detects a hypervariable locus 18kb from the telomere of the human X and Y chromosomes, in the pseudoautosomal region. Here we report that hypervariability of fragments containing this sequence in the human population arises by loss or gain of a 31 base pair GC rich repeat. Labelled 29C1 does not detect a DNA fingerprint at low stringency, though the consensus repeat sequence does show some similarity to previously reported minisatellites. Sequence within the repeat block has G and C rich strands, a feature associated with sequences at the telomeres of many higher organisms. The repeat block shows sequence characteristics normally associated with a low methylation island, though the locus is methylated and does not appear to be transcribed.


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