10: Genetic Vocabulary Flashcards
Result from complex interaction of multiple genes in various sites.
May also be caused by interaction of genes with the environment.
Multifactorial (complex) gene disorders
Children receive two copies of one chromosome from one parent and none from the other parent.
Uniparental disomy
Abnormal development of an organ or large body part from an intrinsically abnormal process.
Malformation
Disorder that doesn’t fall into typical inheritance patterns.
Nontraditional inheritance disorder
Abnormal shape or position of body part caused by external mechanical forces.
Deformation
Probability a gene will be expressed.
Penetrance
Occurs only when a person has homozygous alleles.
Autosomal recessive
Less common because often fetus does not make it to term. Males frequently have worsened manifestation of disease.
X-linked dominant
Female carriers pass to their sons. Females may be carriers (heterozygous) or have condition (homozygous).
X-linked recessive
Typically cause neurodegenerative disorders.
Worsen with each generation.
Trinucleotide repeat disorders
Internally coded inheritable information.
Genotype
Abnormal organization of cells into tissues.
Dysplasia
A single gene is altered.
Single gene disorder
Mutation occurs in a cell of the developing organism after fertilization.
Germline mosaicism
Identifies missing, additional or rearranged chromosomal material.
FISH (Fluorescence in situ hybridization)
More likely to cluster in families.
Multifactorial (complex) gene disorders
This DNA comes from ovum.
Mitochondrial DNA
Multiple genes lead to problem.
Multifactorial disorder
Can never be passed from father to son.
X-linked inheritance
One gene dominates its counterpart from the other parent.
Autosomal dominant
Defect of organ or large body part caused by external interruption of normal process.
Disruption
Entire chromosome or large segment of it is missing or duplicated.
Chromosomal disorder
Failure of pairs to separate properly during meiosis.
Nondisjunction anomalies
The severity of disease may vary from person to person despite similar genotypes.
Variable expressivity
For a female to have the condition, her father must be affected.
X-linked recessive
Outward physical manifestation.
Phenotype
Substances that can damage an embryo; NOT a genetic disorder.
Teratogens
