发育医学电子杂志  2017, Vol. 5 Issue (1): 55-59 |
|
发育基础
综述
|
|
|
|
|
|
| 基因-环境交互作用与非综合征性唇腭裂关系的研究进展 |
| 沈喜 谢小冬 |
| 兰州大学 生命科学学院，基础医学院遗传所，甘肃 兰州 730000 |
|
| SHEN Xi, XIE Xiao-dong |
|
|
摘要 唇腭裂是人类最常见的先天性出生缺陷之一，也是主要的颅面发育畸形之一，代表了一类普遍的具有复杂病因和遗传异质性的出生缺陷。在世界不同地区、不同种族，唇腭裂发病率有较大差异，平均发生率为0.80‰~2.00‰。检索PubMed数据库从1950年至2015年间的文献，活产儿中患病率最高的是黄色人种，如美国印第安人为2.62‰，日本人为1.73‰，中国人为1.56‰；发病率最低的是黑色人种，为0.58‰。
唇腭裂可分为综合征性唇腭裂和非综合征性唇腭裂两大类。唇腭裂患者中，30%为综合征性唇腭裂，伴有其他组织或结构畸形；70%为非综合征性唇腭裂，已排除其他系统畸形。根据解剖学、遗传学和胚胎学方面的差异，非综合征性唇腭裂又分为唇裂伴或不伴腭裂（cleft lip and/or palate，CL/P）和单纯腭裂（cleft palate only，CPO）。患单纯唇裂的男性与女性比例为2︰1，并且左侧唇裂比右侧常见。
非综合征性唇腭裂是由遗传和环境因素共同作用所致。遗传因素包括候选基因及相关位点，环境因素包括吸烟、饮酒、营养状况、妊娠早期发热及药物作用、环境污染、海拔等，胚胎在子宫内的发育与母亲所处环境有紧密关系。由于能同时覆盖大量家系、不同群体、不同地理位置和不同种族的相关研究较少，唇腭裂的病因混杂着复杂的环境和遗传双重因素，一直难以解释清楚。近年来，许多研究突破遗传或环境单因素研究的局限，探讨基因-环境交互作用与非综合征性唇腭裂的患病风险。本文就基因-环境交互作用与非综合征性唇腭裂关系的研究进展做一综述。
|
|
| 关键词:
基因-环境交互作用
环境因素
|
|
收稿日期: 2016-09-27
出版日期: 2017-01-30
发布日期: 2018-01-19
期的出版日期: 2017-01-30
|
| 基金资助: 基金项目：国家自然科学基金（31670379） |
|
通讯作者:
谢小冬：http://jchyxy.lzu.edu.cn/lzupage/2009/10/28/N20091028175257.html
E-mail: xdxie@lzu.edu.cn
|
| [1] |
GAO Xiao-hui, MAO Jian. Clinical features of non-oliguric hyperkalemia in extremely low birth weight infants[J]. Journal of Developmental Medicine(Electronic Version), 0, (): 152
. |
| [2] |
Society of Neonatologist, Chinese Medical Doctor Association. Consensus recommendations on the prevention and early management of respiratory distress syndrome in preterm infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 129
-131
. |
| [3] |
Professional Committee of Respiratory, Society of Neonatologist, Chinese Medical Doctor Association. Clinical application recommendations for heated humidified high flow nasal cannula[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 132
-135
. |
| [4] |
YAN Jun, ZHU Xing-wang, SHI Yuan. Application progress of noninvasive ventilate technique for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 136
-140
. |
| [5] |
GU Min-fang, YANG Chuan-zhong. Progress of intrapartum resuscitation for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 141
-145
. |
| [6] |
LIU Shu-hua, SHEN Yue-bo, LIU Cui-qing, MA Li. The efficacy of pulmonary surfactant for pulmonary function in premature tension pneumothorax[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 146
-151
. |
| [7] |
GAO Xiao-hui, MAO Jian. Clinical features of non-oliguric hyperkalemia in extremely low birth weight infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 152
-158
. |
| [8] |
XIA Yao-fang, YANG Juan , TIAN Bao-li, et al. Value of amplitude-integrated electroencephalography in monitoring acute period of neonatal bilirubin encephalopathy and prognostic assessment[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 159
-163
. |
| [9] |
WANG Li-rong, SUN Xiao-yan, ZHU Ruo-xin, et al. Epidemiological investigation and analysis of women aged 40-55 years old with osteoporosis in Gansu province[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 164
-167
. |
| [10] |
CHEN Ru-yue, SHEN Yun-yan, CHEN Qing , et al. Five cases about Henoch-Schönlein purpura complicated with central nervous system injury in children and literatures review[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 168
-171
. |
|
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
| |
Shared |
|
|
|
|
| |
Discussed |
|
|
|
|
