Mutation characteristics in type I collagen genes in Chinese XXXX with @entity6926 .

@entity1 @entity9063 @entity4173 @entity13239 @entity13284 @entity6926
@entity6926 is normally caused by an autosomal dominant mutation in the type I collagen genes @entity13239 and @entity4173 . The severity of @entity6926 varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of @entity13239 and @entity4173 mutations, few cases have been reported in Chinese @entity1 . We report on five unrelated families and three sporadic cases. The mutations were detected by PCR and direct sequencing. Four mutations in @entity13239 and one in @entity4173 were found, among which three mutations were previously unreported. The mutation rates of @entity9063 at base 128 in intron 31 of the @entity13239 gene and @entity13284 at base 162 in intron 30 of the @entity4173 gene were higher than normal. The @entity1 ' clinical characteristics with the same mutation were variable even in the same family. We conclude that mutations in @entity13239 and @entity4173 also have an important role in @entity6926 in the Chinese population. As the Han Chinese @entity1 account for a quarter of the world's population, these new data contribute to the type I collagen mutation map.
