Overview of Newborn Screening Molecular Assays：新生儿筛查分子检测技术概述.ppt

Obstacles to Introduction of Genomic Methods in Newborn Screening Volume/quality of specimen Throughput (turn around time) Cost ($$$) per sample “Simple test” mentality Public health infrastructure Equipment Space Trained personnel Have test, no treatment Overview of Newborn Screening Molecular Assays Susan M Tanksley, PhD June 28, 2011 Outline Introduction to molecular testing for genetic diseases Brief history of molecular testing in NBS When why to use a molecular test Availability of NBS molecular tests in different states Potential future applications Genetic Variation in Humans Human genome is 99.9% identical across all people ~3 million nucleotide differences between 2 random individuals Mutation = Any change in the DNA sequence Mutations are the source of differences between individuals Mutations can be.... Helpful – Adaptability Color patterns for camouflage Disease resistance Neutral – ‘silent’ or polymorphic Useful as genetic markers Identification, Forensics, Paternity Gene mapping Population studies Harmful - Disease causing Sickle cell anemia Phenylketonuria (PKU) Cystic fibrosis Genetic Disorders Caused by various types of mutations in genes or chromosomes Mutations may occur on An autosome (autosomal) A sex chromosome (X-linked or Y-linked) Multiple associated genes Disease expression may be impacted by environmental factors Single Gene Disorders Caused by mutations in one gene Generally follow Mendelian inheritance patterns Dominant vs. Recessive Expression may be impacted by genomic imprinting or penetrance Includes most inborn errors of metabolism Classes of Single Gene Disorders Autosomal Dominant One copy of a mutated allele results in affected individual aka: AA or Aa Heterozygotes and Homozygous Dominant Individuals are affected. e.g. Achondroplasia, Huntington’s Disease Autosomal Recessive Both alleles of the gene must be mutated to be affected aka: aa Only Homozygous Recessive individuals are affected. e.g. Sickle Cell Anemia, cy