Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 1998
[A study of genetic heterogeneity in Pfeiffer syndrome].
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Ma H, Wang Y, Mi Z, Hao M, Yang L, Zhao S, Ji S, Jing Z
Аннотация
OBJECTIVE: To understand the molecular pathology of Pfeiffer syndrome.
METHODS: DNA from peripheral blood was examined in 4 families with Pfeiffer syndrome by SSCP-sequence analyses and PCR-restriction enzyme digestion.
RESULTS: The authors found the mutations of FGFR2 gene in two families, an A to G transition in the 3' acceptor splice site of intron 8 in a family, and Asp321 Ala substitution in exon 9 in another family. In addition, the mutation in exon 5 of FGFR1 gene (Pro252Arg) was found in a family.
CONCLUSION: These findings reveal the genetic heterogeneity of Pfeiffer syndrome and can help one understand the molecular mechanism of the disease.
METHODS: DNA from peripheral blood was examined in 4 families with Pfeiffer syndrome by SSCP-sequence analyses and PCR-restriction enzyme digestion.
RESULTS: The authors found the mutations of FGFR2 gene in two families, an A to G transition in the 3' acceptor splice site of intron 8 in a family, and Asp321 Ala substitution in exon 9 in another family. In addition, the mutation in exon 5 of FGFR1 gene (Pro252Arg) was found in a family.
CONCLUSION: These findings reveal the genetic heterogeneity of Pfeiffer syndrome and can help one understand the molecular mechanism of the disease.