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

Abstract:

: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 (glycine862 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.

journal_name

Mol Hum Reprod

authors

Iida T,Suzumori K,Ikuta K,Tanemura M,Yagami Y,Okamoto T,Hata A

doi

10.1093/molehr/2.2.131

subject

Has Abstract

pub_date

1996-02-01 00:00:00

pages

131-4

issue

2

eissn

1360-9947

issn

1460-2407

journal_volume

2

pub_type

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