Mahdieh Nejat, Rabbani Bahareh
Medical Genetic Group, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
Medical Genetic Group, Faculty of Medicine, Qazvin University of Medical Sciences, Qazvin, Iran ; Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Iran J Pediatr. 2013 Aug;23(4):375-88.
single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal aberrations including numerical and structural damages. Molecular and cytogenetic techniques have been applied to identify genetic mutations leading to diseases. Accurate diagnosis of diseases is essential for appropriate treatment of patients, genetic counseling and prevention strategies. Characteristic features of patterns of inheritance are briefly reviewed and a short description of chromosomal disorders is also presented. In addition, applications of cytogenetic and molecular techniques and different types of mutations are discussed for genetic diagnosis of the pediatric genetic diseases. The purpose is to make pediatricians familiar with the applications of cytogenetic and molecular techniques and tools used for genetic diagnosis.
传统上，遗传疾病分为三大类：单基因疾病、染色体疾病和多因素疾病。单基因或孟德尔疾病是由基因DNA序列错误引起的，包括常染色体显性（AD）、常染色体隐性（AR）、X连锁隐性（XR）、X连锁显性和Y连锁（全男性遗传）疾病。染色体疾病是由染色体畸变引起的，包括数量和结构损伤。分子和细胞遗传学技术已被应用于识别导致疾病的基因突变。准确诊断疾病对于患者的适当治疗、遗传咨询和预防策略至关重要。本文简要回顾了遗传模式的特征，并对染色体疾病进行了简要描述。此外，还讨论了细胞遗传学和分子技术的应用以及不同类型的突变，用于儿科遗传疾病的基因诊断。目的是使儿科医生熟悉细胞遗传学和分子技术的应用以及用于基因诊断的工具。
