Male infertility Y-deletion detection battery

Chemistry: molecular biology and microbiology – Micro-organism – tissue cell culture or enzyme using process... – Preparing compound containing saccharide radical

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435810, 536 2433, 536 253, 935 8, 935 77, 935 78, C12P 1934, C07H 2104, C12N 1500

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058405496

ABSTRACT:
The present disclosure discloses 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 molecular localisation of the AZF locus: mapping of microdeletions in azoospermic 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., Kindoh, 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.
Sommer and Tautz, "Minimal homology requirements for PCR primers," Nucleic Acids Research, vol. 17, No. 16, p. 6749, 1989.

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