Genetics Review for CSD Professionals

Vocabulary flashcards covering core genetic principles, structures, terminology, competencies, and disorders relevant to Speech-Language Pathology and Audiology.

Central Dogma

The biological framework stating that DNA makes RNA through transcription, and RNA makes protein through translation.

Nucleic Acid

Long biological chains composed of a sugar molecule, a phosphate group, and a nitrogenous base, named based on their sugar component.

Transfer RNA (tRNA) Structural Regions

The distinct functional domains of a tRNA molecule, which include the acceptor stem, D arm, T arm, variable loop, and anticodon arm.

Chromosome Structural Parts

Key structural components of a chromosome, including the short arm (p arm), centromere, long arm (q arm), and telomeres.

Gene

A segment of DNA located at a specific locus on a chromosome that codes for a specific trait.

Allele

A variant form or slight sequence variation of a specific gene present within a population.

Locus

The specific physical chromosomal address where a gene is located, such as 7q31.2 for the CFTR gene.

OMIM (Online Mendelian Inheritance in Man)

An online catalog of human genes and genetic disorders providing comprehensive information on inheritance types and related genes.

Levels of Protein Organization

The four structural levels of proteins: primary (amino acid chain sequence), secondary (hydrogen bond linkages like alpha helices and pleated sheets), tertiary (3D attractions between helices and sheets), and quaternary (complexes of multiple amino acid chains).

FOXP2 Gene

A gene at locus 7q31 (SPCH1) coding for a protein critical to language development; mutations impair synapse formation in brain regions involved in speech and cause verbal dyspraxia.

CNTNAP2 Gene

A candidate gene located at chromosome 7q36 that is associated with Specific Language Impairment (SLI) and other neurodevelopmental disorders.

NCHPEG

The National Coalition for Health Professional Education in Genetics, which developed baseline genetic competencies for healthcare providers including speech-language pathologists and audiologists.

16p11.2 Microduplication

A chromosomal mutation involving a duplicated segment on chromosome 16, associated with speech/language delays, learning difficulties, increased autism risk, delayed motor skills, and a tendency to be underweight.

16p11.2 Microdeletion

A chromosomal mutation involving a missing segment on chromosome 16, associated with speech/language delays, learning difficulties, congenital hypotonia, increased autism risk, and a tendency to be overweight.

Penetrance

The proportion of individuals carrying a specific gene mutation or variant who express the corresponding phenotypic trait or clinical symptoms.

Expressivity

The degree or variation in severity with which a particular genetic trait or disorder is expressed across different individuals with the same genotype.

Disease

An impairment of the normal functioning of the body or its parts characterized by a specific and known etiology.

Disorder

An atypical function or irregularity of body or mental performance often resulting from a disease or structural change.

Syndrome

A common pattern or group of signs and symptoms characterizing a particular disease process or condition, which may have one or multiple potential causes.

Nonsyndromic Hearing Loss

Genetic hearing impairment occurring without any other associated body malformations or systemic signs, accounting for 70% of genetic hearing loss cases.

Syndromic Hearing Loss

Genetic hearing impairment that presents alongside other bodily malformations or additional clinical symptoms, accounting for 30% of genetic hearing loss cases.