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Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one‐fifth are recurrent
Author(s) -
Körkkö Jarmo,
Kuivaniemi Helena,
Paassilta Petteri,
Zhuang Jiapiao,
Tromp Gerard,
DePaepe Anne,
Prockop Darwin J.,
AlaKokko Leena
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:2<148::aid-humu7>3.0.co;2-5
Subject(s) - osteogenesis imperfecta , biology , exon , genetics , gene , mutation , microbiology and biotechnology , proband , transition (genetics) , gene mutation , cpg site , gene expression , dna methylation , anatomy
Previous observations on mutations causing osteogenesis imperfecta (OI) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I procollagen cannot be detected by analyses of cDNAs. Therefore, we developed a protocol whereby 43 exon and exon flanking sequences of the COL1A1 gene can be amplified by PCR and scanned for mutations by denaturing gradient gel electrophoresis. Two new recurrent nucleotide mutations in the gene were found in four apparently unrelated patients with OI. Analysis of previous publications indicated that up to one‐fifth of the mutations causing OI are recurrent in the sense that they were identical in apparently unrelated probands. About 80% of these identical mutations were in CpG dinucleotide sequences. Hum Mutat 9:148–156, 1997. © 1997 Wiley‐Liss, Inc.