Genes and Genomics

  • 제26권4호
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  • Pages.373-378
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  • 2004
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  • 1976-9571(pISSN)
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  • 2092-9293(eISSN)
한국유전학회 (The Genetics Society of Korea)
권호 표지

Mutational Analysis of Sonic Hedgehog Gene in Human Fetuses with Holoprosencephaly

Yoon, Sung-Hee;Kim, Kyu-Rae;Shim, Yhong-Hee

  • 발행 : 2004.12.31
⟨ 이전 논문 다음 논문 ⟩

초록

Holoprosencephaly (HPE)is a major developmental defect in the human brain and face. HPE is etiologically heterogeneous, and its formation depends on both genetic and environmental factors. Sonic Hedgehog (SHH )is known to cause HPE in vertebrates. SHH is a secreted protein that plays a critical role in the early development of the forebrain and central nervous system. To determine whether SHH mutations are involved in pathogenesis of HPE in Korea, we performed mutational analysis in 32 prematurely terminated fetuses with HPE at gestational ages from 21 to 33 weeks by PCR-single strand conformation polymorphism analysis and DNA sequencing. Out of 32 HPE cases examined, one novel silent polymorphism was identified in exon 2 of the SHH gene, suggesting that other mechanism(s) might be involved in the pathogenesis of HPE in prematurely terminated fetuses, and indicating the genetic heterogeneity of HPE.

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참고문헌

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