Module 1 Genetics for PT Flashcards
(39 cards)
What is genetics?
The study of specific, individual genes and their role in inheritance
What is a genome?
Organism’s entire genetic makeup
What are the baseline competencies for NCHPEG?
Recognize limitations of genetic expertise, understand social and physiological limitations, know how and when to refer
How many human chromosomes are there?
46 (23 pairs)
What are the 3 types of genetic problems?
- chromosomal abnormalities
- mendelian genetic diseases
- polygenic multifactoral
What are the 2 types of abnormalities with the number of chromosomes?
- trisomy
2. monosomy
What is an example of a trisomy disorder?
Down syndrome, Edwards’ syndrome
What are abnormalities in the structure of chromosomes?
- deletions
- micro-deletions
- translocations
What is an example of a monosomy disorder?
Turner’s syndrome, Cru di chat syndrome
What are some examples of disorders caused by micro-deletions?
Angelman, DiGeorge, Prader-Willi, and Williams syndrome
What is a chromosomal translocation?
Whole or segment of a chromosome attached/interchanged with another whole or segment
What is meiosis?
Parent cell divides and produces cells that contain 1/2 genetic material of the parent
What is nondisjunction?
Failure of chromosome pairs or sister chromatids to separate properly
What are the general principles of Mendelian Genetics?
Traits passed via coded information found in genes, each individual receives one set of genes (23 strands) from each parent
What are trait variations of a given gene called?
Alleles
What is an allelic combination composing a specific gene or set of genes?
Genotype
What is the difference between homozygous and heterozygous for a trait?
Homo- same form of allele from each parent
Hetero- diff alleles from each parent
What is the difference between dominant and recessive alleles?
Dominant is the expressed allele in an heterozygous person and recessive is an allele that is not expressed in a heterozygous individual
What are the primary methods of transmission in mendelian genetics?
Autosomal recessive, autosomal dominant, x-linked recessive
What is an autosomal recessive trait/disorder?
Mutation on 2 gene copies (homozygous) at specific, non-sex chromosomes required for expression of observable phenotype; i.e. both mother and father carriers = 1 affect, 2 carriers, and 1 unaffected child
What are some examples of autosomal recessive disorders?
Cystic fibrosis, PKU, Tay-Sacks Disease, Werdnig-Hoffmann Disease, Limb-Girdle Muscular Dystrophy, Friedreich’s Ataxia
What is an autosomal dominant trait/disorder?
Mutation on one gene copy (heterozygous) of non-sex chromosomes required for expression of observable phenotype; i.e. affected father, unaffected mother = 2 affected children, 2 unaffected
What are some examples of autosomal dominant disorders?
Osteogenesis imperfecta, Huntington’s Chorea, Achondroplasia
What is an x-linked recessive disorder?
Gene mutation on X chromosome required for expression of observable phenotype
