Male infertility Y-deletion detection battery

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 911, 435 912, 435810, 536 231, 536 2431, 536 235, 536 2433, 536 253, 935 6, 935 7, 935 8, 935 76, 935 77, 935 78, C12Q 168, C07H 2104, C07H 2100, C12N 1500

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057833907

ABSTRACT:
The present disclosure describes a method for probing the integrity of a Y chromosome utilizing multiplex PCR reactions which amplify specific regions of the human Y chromosome which have been linked to normal fertility in human males. The method is capable of detecting deletion mutations within the Y chromosome which are predictive of human male infertility. A kit containing reagents needed to practice the method is also disclosed.

REFERENCES:
Affara, N.A., Lau, Y.-F.C., Briggs, H., Davey, P., Jones, M.H., Khwaja, O., Mitchell, M., and Sargent, C. (1994) Report of the First International Workshop on Human Y Chromosome Mapping 1994. Cytogenet Cell Genet 67, 359-402.
Agulnik, A.I., Mitchell, M.J., Lerner, J.L., Woods, D.R., and Bishop, C.E. (1994) A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens. H. Mol. Gen. 3, 873-878.
Chandley, A.C. and Cooke, H.J. (1994) Human male fertility-Y-linked genes and spermatogenesis. H. Mol. Gen. 3, 1449-1452.
Henegariu, O., Hirschmann, P., Kilian, K., Kirsch, S., Lengauet, C., Maiwald, R., Mielke, K., and Vogt, P. (1994) Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrologia 26, 97-106.
Kobayashi, K., Mizuno, K., Hida, A., Komaki, R., Tomita, K., Matsishita, I., Namiki, M., Iwamoto, T., Tamura, S., Minowada, S., Nakahori, Y., and Nakagome, Y. (1994) PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. H. Mol. Gen. 3, 1965-1967.
Ma, K., Sharkey, A., Kirsch, S., Vogt, P., Keil, R., Hargreave, T.B., McBeath, S., and Chandley, A.C. (1992) Towards the mlecular localisation of the AZF locus: mapping of microdeletions in axoospermic men within 14 subintervals of interval 6 of the human Y chromosome. H. Mol. Gen. 1, 29-33.
Ma, K., Inglis, J.D., Sharkey, A., Bickmore, W.A., Hill, R.E., Prosser, E.J., Speed, R.M., Thomson, E.J., Jobling, M., Taylor, K., Wolfe, J., Cooke, H.J., Hargreave, T.B., and Chandley, A.C., (1993) A Y Chromosome Gene Family with RNA-Binding Protein Homology: Candidates for the Azoospermia Factor AZF Controlling Human Spermatogenesis. Cell 75, 1287-1295.
Nagafuchi, S., Namiki, M., Nakahori, Y., Kondoh, N., Okuyama, A., and Nakagome, Y. (1993) A Minute Deletion Of The Y Chromosome In Men With Azoospermia. The J. of Urol. 150, 1155-1157.

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