SEGREGATION ANALYSIS OF DOMINANT OSTEOGENESIS IMPERFECTA IN ITALY

被引：3

作者：

MOTTES, M

CUGOLA, L

CAPPELLO, N

PIGNATTI, PF

机构：

[1] UNIV VERONA,FAC MED & CHIRURG,IST SCI BIOL,STRADA GRAZIE,I-37134 VERONA,ITALY

[2] UNIV TURIN,DIPARTIMENTO GENET BIOL & CHIM MED,I-10124 TURIN,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 06期

关键词：

D O I：

10.1136/jmg.27.6.367

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the α1(I) gene (COL1A1) in two families, and to the α2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genetic data were insufficient for exclusion of one gene. Four DNA polymorphisms were particularly informative for cosegregation analysis of OI in Italian kindreds.

引用

页码：367 / 370

页数：4

共 23 条

[1] HOMOZYGOUS OSTEOGENESIS IMPERFECTA UNLINKED TO COLLAGEN-I GENES [J].