Day 1: DNA Introduction

Dystrophin

Largest human gene at 2.4 million base pairs

Single-copy DNA

Genomic sequences occurring once per haploid genome

Processed pseudogenes

Retrotransposed mRNA sequences lacking introns

Duplicated pseudogenes

Direct DNA duplications retaining exon-intron structure

Gene family

Genes derived by duplication from common ancestor

Supergene family

Partially homologous genes with divergent functions

Gene cluster

Tandemly arrayed genes with related functions

p53 gene

Tumor suppressor forming multiple spliced isoforms

Regulome

Complete set of DNA regulating gene behavior

MicroRNAs

Small non-coding RNAs regulating target mRNA translation

Telomeres

TTAGGG repeat hairpin structures capping chromosome ends

Telomerase

Enzyme extending telomeres to prevent cellular senescence

Centromere

Chromosomal constriction site binding spindle kinetochores

Trastuzumab

Monoclonal antibody targeting HER2-positive breast cancer

Warfarin

Anticoagulant metabolized by polymorphic CYP2C9 enzyme

Maraviroc

HIV drug targeting CCR5-tropic viral variants

Trofile assay

Companion diagnostic detecting CCR5-tropic HIV strains

CYP2C9

Cytochrome P450 enzyme altering warfarin metabolism

Chromosomal disorders

Genomic conditions caused by numerical or structural changes

Single-gene disorders

Monogenic conditions following classic Mendelian inheritance

Multifactorial disorders

Complex conditions caused by gene-environment interactions

Mitochondrial disorders

Energy-deficiency conditions inherited strictly from mother

Somatic disorders

Non-heritable genetic changes occurring in specific tissues

Epigenetic disorders

Gene expression changes dependent on parent-of-origin

Aneuploidy

Abnormal chromosome number caused by non-disjunction

Trisomy 16

Most common autosomal trisomy causing early miscarriage

Down syndrome

Trisomy 21 caused primarily by maternal nondisjunction

Edwards syndrome

Trisomy 18 characterized by clenched fists

Patau syndrome

Trisomy 13 characterized by polydactyly

Turner syndrome

Monosomy X condition presenting with short stature

Klinefelter syndrome

47,XXY karyotype presenting with gynecomastia and infertility

Nondisjunction

Failure of homologous chromosomes or chromatids to separate

Heterodisomy

Meiosis I error producing two non-identical homologues

Isodisomy

Meiosis II error producing two identical sister chromatids

Robertsonian translocation

Fusion of long arms of two acrocentric chromosomes

Acrocentric chromosomes

Chromosomes with centromeres near ends (13,14,15,21,22)

Triploidy

Lethal condition with three complete chromosome sets (69,XXX)

Tetraploidy

Lethal condition with four complete chromosome sets (92,XXXX)

Hydatidiform mole

Abnormal conceptus consisting exclusively of paternal chromosomes

Inversion

Balanced rearrangement where a chromosome segment reverses direction

Translocation

Exchange of genetic material between non-homologous chromosomes

Deletion

Unbalanced loss of a chromosome segment

Duplication

Unbalanced gain of an extra chromosome segment

Isochromosome

Abnormal chromosome with two identical arms fused together

Ring chromosome

Circular chromosome formed by end deletions and fusion

Cri-du-chat

Microdeletion 5p15 syndrome causing cat-like cry

DiGeorge syndrome

22q11.2 deletion causing thymic hypoplasia and cardiac defects

Karyotyping

Chromosomal banding analysis detecting large structural changes

FISH

Fluorescent probe hybridizing specific DNA sequences rapidly

Array CGH

Microarray method detecting submicroscopic copy number variants

Exome sequencing

Targeted sequencing of all protein-coding exon regions

CRISPR-Cas9

RNA-guided system creating precise targeted double-strand breaks

Cas9 protein

Endonuclease executing DNA double-strand breaks in CRISPR

Genomic imprinting

Parent-of-origin specific gene expression through DNA methylation

Prader-Willi

Paternal 15q11-q13 deletion causing severe hyperphagia and obesity

Angelman syndrome

Maternal 15q11-q13 deletion causing severe ID and ataxia

UBE3A gene

Maternally expressed gene mutated in Angelman syndrome

Uniparental disomy

Inheritance of both chromosome copies from single parent

Trisomy rescue

Loss of extra chromosome early in embryonic development

Pharmacogenomics

Study of genomic variation affecting individual drug response

Precision medicine

Tailored healthcare integrating genomic, environmental, and lifestyle factors

Polygenic risk

Aggregated score predicting liability for complex chronic diseases

BRCA1 gene

High-penetrance gene variant predisposing to breast cancer

Lynch syndrome

Hereditary non-polyposis colorectal cancer caused by mismatch repair

eMERGE program

Genomic initiative validating polygenic scores across populations

GINA

Federal law prohibiting genetic discrimination in employment

HIPAA

Federal privacy act protecting health and genetic data

Florida law

State legislation prohibiting insurance exclusion based on genetics

IGNITE statement

Policy statement condemning eugenic practices and systemic racism

Neural tube

Embryonic structure whose defects are reduced by folate

Folate

Vitamin B9 supplementation preventing neural tube defects

Segmental duplications

Homologous DNA regions predisposing to unequal crossing over

Mosaicism

Presence of two genetically distinct cell lines within individual

Mitotic nondisjunction

Post-zygotic division error leading to mosaic chromosomal patterns

Maternal age

Primary risk factor for autosomal meiotic nondisjunction

Prophase I

Meiotic stage where oocytes arrest for decades

Kinetochore

Protein structure at centromere binding mitotic spindle fibers

ENCODE project

Consortium mapping functional elements across human genome

HapMap project

Catalog of common single nucleotide polymorphism patterns

GWAS

Genome-wide study identifying common genetic variants linked to disease

Microdeletion

Submicroscopic deletion detected via FISH or array CGH

Hereditary cancers

Inherited cancer syndromes targeted by CDC public health initiatives

Conotruncal defects

Cardiac malformations characteristic of 22q11.2 deletion syndrome

Thymic hypoplasia

Immune system defect characteristic of DiGeorge syndrome

Syndromic obesity

Metabolic presentation characteristic of Prader-Willi syndrome

Happy puppet

Historical term for inappropriate laughter in Angelman syndrome

Targeted panels

Next-generation sequencing focusing on specific disease genes