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Source and Description 47z (DXYS5), located on the short arm of Ychromosome, i s a 2.3Kb EcoRI/Mbol fragment inserted in to the EcoRI s i t e of pBR322 with a BamHI/EcoRI l inker (1 ) . Homologous sequence i s located on Xq21. Polymorphism 1. Y-chromosome polymorphism: StuI iden t i f i e s a two-al lele polymorphism at 17Kb and 5.3Kb. 2. X-chromosome polymorphism: Hindlll-TaqI double digestion iden t i f i e s a two-al lele polymorphism a t 3.2Kb and 2.4Kb ( f igure ) . Frequency 1. Y-chromosome polymorphism: Studxed in 68 unrelated Japanese males; 17 Kb allele (Yl): 0.72 5.3Kb allele (Y2): 0.28 2. X-chromosome polymorphism: Studied in 89 unrelated Japanese males and 90 unrelated Japanese females; 3.2Kb allele (XI): 0.76 2.4Kb allele (X2): 0.24 Mendelian Inheritance 1. Y-chromosome polymorphism: Y-linked inheritance shown in 6 families. 2. X-chromosome polymorphism: Co-dominant X-linked segregation shown in 8 families. Comment No linkage disequilibrium has been observed between the X and the Y RFLPs. Reference 1. Vergnaud.G., Page.D.C, Simmler,M.C. , Brown,L. , Rouyer.F., Noel.B., Botstein.D., de la Chapelle.A. and Weissenbach,J. (1986) Am. J. Hum. Genet. 38, 109-124. Acknowledgement We are grateful to Dr.J.Weissenbach for kindly providing us the plasmid 47z. This work is supported in part by grants from the Ministry of Health and Welfare and the Ministry of Education, Science and Culture.

Two 47z [DXYS5] RFLPs on the X and the Y chromosome