[1]曹莹,路文盛.假性甲状旁腺功能减退症Ⅰ型遗传学研究进展[J].国际内分泌代谢杂志,2022,42(03):184-186,194.[doi:10.3760/cma.j.cn121383-20210111-01028]
 Cao Ying,Lu Wensheng.Advances in genetics of pseudoparathyroidism Ⅰ[J].International Journal of Endocrinology and Metabolism,2022,42(03):184-186,194.[doi:10.3760/cma.j.cn121383-20210111-01028]
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假性甲状旁腺功能减退症Ⅰ型遗传学研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
42
期数:
2022年03期
页码:
184-186,194
栏目:
综述
出版日期:
2022-05-20

文章信息/Info

Title:
Advances in genetics of pseudoparathyroidism Ⅰ
作者:
曹莹路文盛
长治医学院附属运城同德医院内分泌科 044000
Author(s):
Cao Ying Lu Wensheng
Department of Endocrinology, Yuncheng Tongde Hospital Affiliated to Shanxi Changzhi Medical College, Yuncheng 044000, China
关键词:
假性甲状旁腺功能减退症Ⅰ型 GNAS基因 遗传学
Keywords:
Pseudoparathyroidism Ⅰ GNAS gene Genetics Therapy
DOI:
10.3760/cma.j.cn121383-20210111-01028
摘要:
假性甲状旁腺功能减退症(PHP)是由GNAS基因突变引起的以多激素抵抗和Albright遗传性骨营养不良(AHO)为特征的疾病。PHP-Ⅰ型较为常见,可分为PHP-Ⅰa型、家族性PHP-Ⅰb型、散发性PHP-Ⅰb型及PHP-Ⅰc型。研究发现GNAS基因突变具有突变位点多样性,不同分型的基因型与表型相关性低,现将已明确的该疾病遗传学研究作一综述。
Abstract:
Pseudoparathyroidism(PHP)is a disease caused by GNAS gene mutation and characterized by multiple hormone resistance and Albright's hereditary osteodystrophy(AHO). PHP-Ⅰ is common and can be classified into PHP-Ⅰa, familial PHP-Ⅰb, sporadic PHP-Ⅰb, and PHP-Ⅰc. It is found that GNAS gene mutation has the diversity of mutation sites, and there is a low correlation between genotypes and phenotypes of different types. This article will make a review on the genetics of PHP.

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备注/Memo

备注/Memo:
通信作者:路文盛,Email:lwswxqz@163.com
更新日期/Last Update: 2022-05-10