Abstract：
The fibrillar collagen family is comprised of the quantitatively major types I, II and III collagens and the quantitatively minor types V and XI. These form heterotypic collagen fibrils (composed of more than a single collagen type) where the minor collagens have a regulatory role in controlling fibril formation and diameter. The structural pre-requisites for normal collagen biosynthesis and fibrillogenesis result in many places where this process can be disrupted, and consequently a wide variety of phenotypes result when pathogenic changes occur in these fibrillar collagen genes. Another contributing factor is alternative splicing, both naturally occurring and as the result of pathogenic DNA alterations. This article will discuss how these factors should be taken into account when assessing DNA sequencing results from a patient.
摘要：
纤维状胶原蛋白家族由定量的主要类型I组成，II和III胶原蛋白以及定量次要的V型和XI型。这些形成异型胶原纤维(由多于一种胶原类型组成),其中次要胶原在控制原纤维形成和直径方面具有调节作用。正常胶原蛋白生物合成和原纤维形成的结构先决条件导致许多地方可以破坏该过程，因此，当这些纤维状胶原蛋白基因发生致病性变化时，会产生各种各样的表型。另一个促成因素是选择性拼接，既是自然发生的，也是致病性DNA改变的结果。本文将讨论在评估患者的DNA测序结果时应如何考虑这些因素。
