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人类基因组计划与镰状细胞病。

Human genome project and sickle cell disease.

机构信息

Social Work Program, Elizabeth City State University, Elizabeth City, North Carolina 27909, USA.

出版信息

Soc Work Public Health. 2011;26(4):405-16. doi: 10.1080/19371918.2011.579488.

DOI:10.1080/19371918.2011.579488
PMID:21707349
Abstract

Sickle cell disease is one of the most common genetic blood disorders in the United States that affects 1 in every 375 African Americans. Sickle cell disease is an inherited condition caused by abnormal hemoglobin in the red blood cells. The Human Genome Project has provided valuable insight and extensive research advances in the understanding of the human genome and sickle cell disease. Significant progress in genetic knowledge has led to an increase in the ability for researchers to map and sequence genes for diagnosis, treatment, and prevention of sickle cell disease and other chronic illnesses. This article explores some of the recent knowledge and advances about sickle cell disease and the Human Genome Project.

摘要

镰状细胞病是美国最常见的遗传性血液疾病之一,影响每 375 名非裔美国人中的 1 人。镰状细胞病是一种由红细胞中异常血红蛋白引起的遗传性疾病。人类基因组计划为理解人类基因组和镰状细胞病提供了有价值的见解和广泛的研究进展。遗传知识的重大进展导致研究人员在为镰状细胞病和其他慢性疾病进行诊断、治疗和预防而绘制和测序基因的能力方面取得了提高。本文探讨了一些关于镰状细胞病和人类基因组计划的最新知识和进展。

相似文献

1
Human genome project and sickle cell disease.人类基因组计划与镰状细胞病。
Soc Work Public Health. 2011;26(4):405-16. doi: 10.1080/19371918.2011.579488.
2
University students in Nigeria: knowledge, attitude toward sickle cell disease, and genetic counseling before marriage.尼日利亚的大学生:对镰状细胞病的认识、婚前态度及遗传咨询
Int Q Community Health Educ. 2006;26(1):85-93. doi: 10.2190/JN25-4353-75PK-3733.
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Sickle cell anemia in Garasia tribals of Rajasthan.拉贾斯坦邦加拉西亚部落中的镰状细胞贫血症
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Student screening for inherited blood disorders in Bahrain.巴林学生遗传性血液疾病筛查。
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Factors influencing independence in adolescents with sickle cell disease.影响镰状细胞病青少年独立性的因素。
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Update: new guidelines for the treatment of infants with sickle cell disease. Agency for Health Care Policy and Research.更新:镰状细胞病婴儿治疗新指南。医疗保健政策与研究机构。
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Family and social issues in sickle cell disease.镰状细胞病中的家庭和社会问题。
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Psychological Predictors of Pain in Children and Adolescents With Sickle Cell Disease: A Scoping Review.镰状细胞病儿童和青少年疼痛的心理预测因素:一项范围综述
J Pediatr Oncol Nurs. 2019 Mar/Apr;36(2):150-159. doi: 10.1177/1043454218819457. Epub 2018 Dec 19.
2
A call for policy action in sub-Saharan Africa to rethink diagnostics for pregnancy affected by sickle cell disease: differential views of medical doctors, parents and adult patients predict value conflicts in Cameroon.呼吁撒哈拉以南非洲采取政策行动,重新思考镰状细胞病影响的妊娠诊断:喀麦隆医生、父母和成年患者的不同观点预示着价值冲突
OMICS. 2014 Jul;18(7):472-80. doi: 10.1089/omi.2013.0167. Epub 2014 Apr 22.
3
Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
SLC12 转运蛋白的生理学:来自遗传性人类基因突变和基因工程小鼠敲除的启示。
Am J Physiol Cell Physiol. 2013 Apr 15;304(8):C693-714. doi: 10.1152/ajpcell.00350.2012. Epub 2013 Jan 16.