Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1

作者: Ren�eH. Martin , JudyE. Chernos , R.Brian Lowry , H.Anthony Pattinson , Leona Barclay

DOI: 10.1007/BF00210597

关键词:

摘要: Human sperm chromosomes were studied in a man heterozygous for pericentric inversion of chromosome (1)(p31q12). Q-banded pronuclear analyzed after vitro penetration golden hamster oocytes. A total 159 examined: 54% bearing the inverted 1 and 46% normal 1. These frequencies are not significantly different from theoretical 1∶1 ratio. There no recombinant with duplications or deficiencies, suggesting that pairing loop failed to form crossing-over was suppressed. The frequency abnormalities unrelated 5% numerical, 8.8% structural, 2.5% numerical values control donors our lab. X- Y-bearing 54%, respectively, expected value 50%. This is fifth by human analysis; have been observed two five cases. Some factors associated an increased risk appear be size greater than 30% breakpoints G-light bands.

参考文章(21)
R H Martin, Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion, inv (3) (p25q21). American Journal of Human Genetics. ,vol. 48, pp. 856- 861 ,(1991)
Baker Tg, Burgoyne Ps, Meiotic pairing and gametogenic failure. Symposia of the Society for Experimental Biology. ,vol. 38, pp. 349- ,(1984)
G.L.G. Miklos, Sex-chromosome pairing and male fertility. Cytogenetic and Genome Research. ,vol. 13, pp. 558- 577 ,(1974) , 10.1159/000130307
R. H. Martin, W. Balkan, Kathy Burns, A. W. Rademaker, C. C. Lin, N. L. Rudd, The chromosome constitution of 1000 human spermatozoa. Human Genetics. ,vol. 63, pp. 305- 309 ,(1983) , 10.1007/BF00274750
Renee H. Martin, Alfred W. Rademaker, Kathy Hildebrand, Leslie Long-Simpson, Dianna Peterson, Judy Yamamoto, Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Human Genetics. ,vol. 77, pp. 108- 114 ,(1987) , 10.1007/BF00272374
EDWINA RUDAK, PATRICIA A. JACOBS, RYUZO YANAGIMACHI, Direct analysis of the chromosome constitution of human spermatozoa Nature. ,vol. 274, pp. 911- 913 ,(1978) , 10.1038/274911A0
W. Balkan, K. Burns, R.H. Martin, Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 3. Cytogenetic and Genome Research. ,vol. 35, pp. 295- 297 ,(1983) , 10.1159/000131882