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Jpn J Hum Genet. 1992 Sep;37(3):187-93.

PCR detection of structurally abnormal Y chromosomes.

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  • 1Department of Congenital Abnormalities Research, National Children's Medical Research Center, Tokyo, Japan.


Three probes each detecting a locus on the proximal long arm of the Y chromosome were partially sequenced. Thus, 3 sets of novel primers were developed which enable PCR detection of these 3 loci. Five previously reported primer sets, 3 on the short arm and each one on the centromere and the distal long arm, were mapped along with the novel three using a mapping panel consisted of 8 patients each with different structural abnormality of the Y chromosome. Now, PCR detection of these 8 loci covering an entire length of the Y chromosome has become possible enabling rapid screening of patients with Y chromosome aberrations.

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