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Molecular Human Reproduction Vol. 2, NUMBER 2 pp. 131-134, 1996
© European Society of Human Reproduction and Embryology 1996

research-article

Identification of a Gly862 to Ser substitution in the type I collagen gene from a single spermatozoon

T. Iida1, K. Suzumori1,4, K. Ikuta1, M. Tanemura1, Y. Yagami1, T. Okamoto2 and A. Hata3

1department of Obstetrics and Gynecology, Nagoya City University Medical School 1-Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya 467 Japan 2department of Molecular Genetics, Nagoya City University Medical School Newcastle upon Tyne, NE2 4HH, UK 3Department of Public Health, Hokkaido University School of Medicine Southampton SO9 4HA, UK

To whom correspondence should be addressed at: 4To whom correspondence should be addressed

Individual spermatozoa from the father of two affected infants with osteogenesis imperfecta were separated by dilution and micromanipulation. A segment of the type I collagen gene containing the mutant region was amplified by nested polymerase chain reaction and sequenced. Among 40 individual spermatozoa, 15 specimens were identified as mutants with a substitution of guanine3208 to adenine (glycine882 to serine) while 18 and seven specimens were of the wild and mixed types respectively. Through this study, we have established a molecular procedure that can be considered as prerequisite for preimplantation diagnosis of genetic disorders with a single point mutation.

gene analysis/osteogenesis imperfecta/preimplantation diagnosis/sequencing/single spermatozoon


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