Yang Z, Ke Z F, Zeng C, Wang Z, Shi H J, Wang L T
Department of Pathology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, PR China.
Genet Mol Res. 2011 Feb 8;10(1):177-85. doi: 10.4238/vol10-1gmr984.
Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been reported in Chinese people. We report on five unrelated families and three sporadic cases. The mutations were detected by PCR and direct sequencing. Four mutations in COL1A1 and one in COL1A2 were found, among which three mutations were previously unreported. The mutation rates of G>C at base 128 in intron 31 of the COL1A1 gene and G>A at base 162 in intron 30 of the COL1A2 gene were higher than normal. The patients' clinical characteristics with the same mutation were variable even in the same family. We conclude that mutations in COL1A1 and COL1A2 also have an important role in osteogenesis imperfecta in the Chinese population. As the Han Chinese people account for a quarter of the world's population, these new data contribute to the type I collagen mutation map.
成骨不全通常由I型胶原基因COL1A1和COL1A2的常染色体显性突变引起。成骨不全的严重程度各不相同，从围产期致死到非常轻微的表型都有。尽管已有许多关于COL1A1和COL1A2突变的报道，但在中国人群中报道的病例很少。我们报告了五个无血缘关系的家庭和三个散发病例。通过聚合酶链反应（PCR）和直接测序检测到这些突变。在COL1A1中发现了四个突变，在COL1A2中发现了一个突变，其中三个突变以前未被报道。COL1A1基因第31内含子第128位碱基的G>C突变率和COL1A2基因第30内含子第162位碱基的G>A突变率高于正常水平。即使在同一家族中具有相同突变的患者临床特征也存在差异。我们得出结论，COL1A1和COL1A2中的突变在中国人群的成骨不全中也起重要作用。由于汉族人口占世界人口的四分之一，这些新数据有助于完善I型胶原突变图谱。
