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level: AGENTS OF DISEASE

Questions and Answers List

level questions: AGENTS OF DISEASE

Question	Answer
the basic physical and functional unit of heredity	Gene
Passed on from parent to child	Gene
game of lottery because you may luck out	Gene
the specific set of genes carried by an individual	Genotype
Combination of genes from parents	Genotype
the clinical appearance of a patient or overt manifestation of this defect which can be seen, felt, or measured by laboratory tests	Phenotype
Physical appearance of an individual	Phenotype
Whatever genes that are seen/ clinically measurable	Phenotype
traits produced by many genes at different loci each with small, additive effect	Polygenic traits
Polygenic traits are also called	MULTIFACTORIAL OR QUANTITATIVE TRAITS
the specific site on a chromosome occupied by a particular gene	Locus
genes which occupy homologous loci on homologous chromosomes	Alleles
one which expresses its phenotype when it is present in the homozygous or single gene dose form	Dominant gene
one which expresses its phenotype when it is present in the homozygous or double gene dose form	Recessive gene
an individual whose two alleles at a given locus are different	Heterozygote
an individual whose two alleles at a given locus are identical	Homozygote
genes on the X chromosomes	X-Iinked
traits determined by such genes are called x-linked or sex-linked	X-Iinked
occurring in different members or a family; may or may not be of genetic etiology	Familial
Sisters congenitally missing lateral incisors	Familial
Traits that appear in the family (common)	Familial
present at birth, but not necessarily genetic	Congenital
the nuclear structure composed of DNA which contains hereditary units, the genes.	Chromosome
any chromosome other than the sex chromosome	Autosome
a mature germ cell (sperm or ovum) with a haploid chromosome number	Gamete
the chromosome number of a normal gamete which contains only one member of each homologous chromosome pair	Haploid
the fertilized diploid ovum formed by the union of the haploid egg with the haploid sperm	Zygote
the frequency of phenotypic expression of a specific gene in a group of individuals known to carry that gene	Penetrance
Number by which a specific gene gets expressed in a specific group	Penetrance
2 out of 4 symbols are tall	Penetrance
the degree of severity of the effect of a gene in individuals with the same genotype	Expressivity
How obvious/overt a specific genetic characteristic is shown	Expressivity
you are tall but how tall are you compared to your parents	Expressivity
Curly hair gene, how curly in your hair compared to your parents	Expressivity
a normal-appearing individual who carries a single recessive gene together with its normal allele	Carrier
Recessive gene is not seen clinically	Carrier
occur primarily from agents injuring the inside of the cell	Malformations
caused by radiation, ingestion of mercury (from food such as salmon and tuna)	Malformations
from parents if they have the gene causing malformation	Hereditary
if the parent is exposed or the mother has ingested something	Developmental
may include inborn errors resulting to metabolic disorders such as the inability of a cell to utilize a specific enzyme properly	Malformations
AGENTS OF DISEASES: refers to the injuries occurring within the cell	Endogenous or Intrinsic Factors or Genetic
AGENTS OF DISEASES: primarily genetic and constitute hereditary disease	Endogenous or Intrinsic Factors or Genetic
AGENTS OF DISEASES:factors originating outside the cell	Exogenous/ External Factors
AGENTS OF DISEASES:agents which commonly produces disease	Exogenous/ External Factors
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): a hereditary trait which is governed by a single dominant allele	Autosomal Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):A single gene/allele could cause disease	Autosomal Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):Every affected person has at least one affected parent.	Autosomal Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Males and females are equally likely to be affected and should be capable of transmitting the trait, provided the affected gene does not cause sterility	Autosomal Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Usually there is no skipping of generations, and father to son and mother to daughter transmission should be as frequent as father to daughter and mother to son.	Autosomal Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):Affected persons typically transmit the trait to half their offspring.	Autosomal Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):A trait transmitted as an autosomal recessive is expressed only in a person who receives the recessive gene in question from each parent; therefore making him homozygous	Autosomal Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): The trait appears only in brothers/sisters, not in their parents, offspring or other relatives.	Autosomal Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): On average, 1/4 of the brothers/sisters of the family who is noted to have the trait in question are affected.	Autosomal Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): The parents of the affected child may be consanguineous (common ancestor)	Autosomal Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Males and females are equally affected	Autosomal Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Incidence of trait is much higher in males than in females	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):The trait is transmitted by affected men to all of their daughters who become carriers	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): The trait cannot be transmitted from father to son	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): The trait may be transmitted through a series of carrier females, and if so the affected males in a family are related to one another through these carrier females.	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Genes which are recessive in females behave as dominant genes in males since they are always expressed	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Affected males cannot transmit an X-Iinked gene to their sons since son receives the Y Chromosome from the father	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):Affected females transmit the gene to half their sons who then express the trait	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Affected females transmit the gene to half their daughters who will then be carriers like their mothers	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): color blindness & hemophilia	X-Iinked Recessive Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): females have twice as many X-chromosomes as males	X-Iinked Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):An affected female, if heterozygous, will transmit the gene to 1/2 of her offspring regardless of their sex	X-Iinked Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): An affected male cannot transmit the trait to his sons, but all his daughters receive his X-chromosome containing the affected gene and hence will be affected	X-Iinked Dominant Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): trait appearing only in males	Y-linked (Holandric) Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): Every son of the affected father is affected and no daughter would ever be affected or transmit the trait	Y-linked (Holandric) Inheritance
genes that determine the maleness of the individual	Y-chromosome
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance): more than one gene is a possible cause	Polygenic ( Multifactorial) Inheritance
Endogenous or Intrinsic Factors or Genetic(Monogenic Inheritance):very susceptible to environmental modification	Polygenic ( Multifactorial) Inheritance
CHROMOSOMAL ABERRATIONS(Alteration in size, shape and fine structures):Eg. Mongolism (Down's Syndrome)	Presence of extra chromosomes
CHROMOSOMAL ABERRATIONS(Alteration in size, shape and fine structures):Eg. Turner's syndrome	Missing chromosome: monosomy
CHROMOSOMAL ABERRATIONS(Alteration of structures):a piece of chromosome is absent	Deletion
CHROMOSOMAL ABERRATIONS(Alteration of structures):the insertion of an extra chromosome fragment into a chromosome from its homolog	Duplication
CHROMOSOMAL ABERRATIONS(Alteration of structures): the breaking of a chromosome in two places and subsequent rejoining with the middle piece inverted	Inversion
CHROMOSOMAL ABERRATIONS(Alteration of structures):the attachment of a broken piece from one chromosome to another, but non homologous chromosome	Translocation
any gene that is a causative factor in the initiation of cancerous growth	Oncogenes