ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.

• 影响指数: 8.864
• 发表时间: Jul 2013
• 来源期刊: Genet Med
• DOI: 10.1038/gim.2013.61
• PMID: 23765048
• 文章类型: Guideline
• 中科院分区: Q1
• 方向: 生物
• 作者列表: Monaghan KG,Lyon E,Spector EB,

Mesh: Blotting, Southern; Female; Fragile X Mental Retardation Protein / genetics; Fragile X Syndrome / etiology genetics; Genetic Association Studies; Genetic Testing; Genetics, Medical; Humans; Mutation; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis

Abstract

Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document provides updated information regarding FMR1 gene mutations, including prevalence, genotype-phenotype correlation, and mutation nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene, including triplet repeat-primed and methylation-specific polymerase chain reaction. In addition to report elements, examples of laboratory reports for various genotypes are also included.