Nuytinck L, Coppin C, De Paepe A
Center of Medical Genetics, University Hospital of Ghent, Belgium.
Matrix Biol. 1998 Jan;16(6):349-52. doi: 10.1016/s0945-053x(98)90007-5.
In patients with osteogenesis imperfecta (OI) type I, a decrease in synthesis of type I collagen is usually observed as a result of a COL1A1 null allele. Testing for COL1A1 null alleles can be done using polymorphic markers in the coding region of the COL1A1 gene. Until now, only one marker for polymorphism in the 3' untranslated region (3' UTR) of the COL1A1 gene has been available. We have identified a 4 bp insertion in the 3' UTR of the COL1A1 gene localized downstream of the MnlI RFLP and used both markers in combination for the analysis of patients with OI type I. In a total of 50 patients, 28 showed heterozygosity for one of the two markers; 14 of them were shown to have a COL1A1 null allele.
在Ⅰ型成骨不全症（OI）患者中，由于COL1A1无效等位基因，通常会观察到Ⅰ型胶原蛋白合成减少。可以使用COL1A1基因编码区的多态性标记来检测COL1A1无效等位基因。到目前为止，COL1A1基因3'非翻译区（3'UTR）中只有一个多态性标记可用。我们在位于MnlI限制性片段长度多态性（RFLP）下游的COL1A1基因3'UTR中鉴定出一个4 bp的插入，并将这两个标记结合起来用于分析Ⅰ型OI患者。在总共50例患者中，28例在这两个标记中的一个上表现出杂合性；其中14例被证明具有COL1A1无效等位基因。
