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[家族性高度近视——现代遗传学的挑战]

[Familial high myopia--challenge of modern genetics].

作者信息

Adamiec Joanna, Nizankowska Maria Hanna

机构信息

Katedry i Kliniki Okulistyki Akademii Medycznej we Wrocławiu.

出版信息

Klin Oczna. 2003;105(1-2):106-8.

Abstract

In this paper has been accomplished an estimation of contemporary achievement in molecular researches domain's of pathology in familial high myopia. Clinical observations of monozygotic and dizygotic twins groups and also among family members with this type of myopia disclosing in following generations show, that it has inborn character. Nowadays, it has been identified three gen locci connected with heritage of this illness unit: 18p11.31, 12q21-31, 7q36. Above incontestable achievements do not interpret mechanism uprising this disease. Problem is still, to define the products planned by exchanged area of DNA, conditioning progress of high familial myopia.

摘要

本文完成了对家族性高度近视病理学分子研究领域当代成果的评估。对同卵和异卵双胞胎群体以及患有此类近视并在后代中出现的家庭成员的临床观察表明,它具有先天性。如今,已确定了三个与该疾病遗传相关的基因位点:18p11.31、12q21 - 31、7q36。上述无可争议的成果并未解释该疾病的发病机制。问题仍然是,确定由DNA交换区域所规划的产物,这些产物决定了高度家族性近视的发展。

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