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本文对二个家族中14例成骨不全症患者进行了临床观察。家系调查结果表明家族Ⅰ符合常染色体显性遗传,家族Ⅱ符合常染包体隐性遗传,虽二者遗传方式不同,但均与近亲婚配有关。文中对本症的病因进行了探讨,首先介绍了甲状腺功能紊乱致成本症的内分泌学说,继之从分子学水平进行了阐述,认为Ⅰ型溶胶原合成和结构发生突变即溶胶原的α_2链或胶原α_1链氨基酸的序列改变,是发生这类遗传病的病因,至于甲状腺功能紊乱的临床表现可能是本症周身结缔组织病变和血管损害累及甲状腺的结果,而并非是此症病因。
In this paper, 14 patients with osteogenesis imperfecta in two families were observed. The results of pedigree showed that family I was consistent with autosomal dominant inheritance, and family II was consistent with the hermaphroditic occult inheritance. Although the genetic patterns of the two families were different, they were all related to the marriage of their relatives. The etiology of this disease is discussed in this article, first introduced the cost-induced thyroid dystrophy endocrine theory, followed by molecular level elaborated that the type Ⅰ procollagen synthesis and structural mutations that the sol of the original α 2 chain or collagen α_1 chain amino acid sequence changes, is the cause of such genetic disease, as the clinical manifestations of thyroid disorders may be the cause of peripheral connective tissue disease and vascular damage involving the thyroid, but not the etiology.