Ch. 4 Extensions and Modifications of Basic Principles Flashcards
Autosomes
Nonsex chromosomes, which are the same in males and females
XX Females and XO Males
in some insects, this is the genotypical system used.
absence or presence of second letter.
ZZ Males and ZW Females
genotypical system found in birds, snakes, butterflies, some amphibians, and some fishes.
pseudoautosomal regions
of the human X and Y chromosomes pair and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex-linked fashion. PAR1 is located at the terminal region of the short arms and PAR2 at the tips of the long arms of these chromosomes.
genic sex determination
sex is genetically determined but there ar no obvious differences in the genders chromosomes. genotypes at one or more loci determine the sex of an individual. found in some plants, fungi, protozoans, and fishes. (different from us - chromosomal sex determination- where the sex chromosomes look different in males and females)
Chromosomal sex determination
humans determination of sex where the gene is located on Y chromosome and the sex chromosomes that carry those genes are different looking in males and females
turner syndrome
often females. have underdeveloped secondary sex characteristics. affected women are short, low hairline, relitively broad chest, folds of skin on neck. most are sterile. genetype = XO
Klinefelter syndrome
One or more Y chromosomes and MULTIPLE X chromosomes. Often XXY but some are XXXY, XXXXY, XXYY. Male, small testes and reduced facial and pubic hair. Often taller and sterile.
Triple X syndrome
XXX, XXXX, XXXXX . Female traits but tall and thin. The XXX is normal inteligence but severity of intellectual disability increases with number of X chromosomes beyond 3.
SRY gene
“sex-determining region Y” Y linked gene determines sex. if the gene is expressed then testosterone floods system and male characteristics develop.
epistasis
phenomenon when the effect of gene interaction is that one gene masks (hides) the effect of another gene at a differnt locus.
Epistatic gene
this gene does the masking
hypostatic gene
the gene that gets masked.
allelic
occuring at the same locus
Complementation test
two recessive mutation homozygous parents mate and their offspring will be heterozygous with mutatnt allels (if occurs allelically). if they don’t express mutation but have wild type phenotype then Complementation occured.
Complementation
has taken place if an individual possessing two recessive mutations has a wild-type phenotype, indicating that the mutations are nonallelic genes.
sex limited characteristic
encoded by autosomal genes that are expressed in only one sex. the trait has zero penetrance in the other sex.
sex influenced characteristic
determined by autosomal genes and are inherited according to Mendel’s principles but they are expressed differently in Males and females
Cytoplasmic inheritance
some characteristics are encoded by genes located in the cytoplasm. Not all genetic material of a cell is found in the nucleus.
complete dominance
White + Red = Red offspring
incomplete dominance
white + red = pink
codominance
white + red = some red parts some white parts
penetrance
percentage of individuals having a particular genotype that express the expected phenotype 38/42 people having the allele for polydactaly. 38 were polydactylous. 98% penetrance.
expressivity
degree to which the trait is expressed
genetic maternal effect
the phenotype of the offspring is determined not by the individuals genotype but by the genotype of the mother.
cytoplasmic inheritance
the cytoplasmic genes for a characteristic are inherited from ony one parent, usually the mother.
genomic imprinting
genes whose expression is affected by the sex of one transmitting parent
epigenetics
is the study of heritable changes in gene expression (active versus inactive genes) that do not involve changes to the underlying DNA sequence — a change in phenotype without a change in genotype — which in turn affects how cells read the genes.
phenocopy
environmental factors alone can produce a phenotype that is the same as the phenotype produced by a genotype
polygenic characteristics
characteristics encoded by genes at many loci
pleiotropy
One gene affects multiple characteristics. EX: marfan syndrome (single mutation) cause long features, heart problems, and eye problems.
discontinuous characteristics
Qualitative “one or other”
continuous characteristics
Quantitative range
Barr Body
condensed darkly staining bodies in the nuclei of cells. which is an inactive x chromosome.
Lyon hypothesis
hypothesis that states Random inactivation of X chromosome in females. xx one active. xxx only one active. xxxx only one active therefore the rest are barr bodies. this is random inactivation though.
GENOMIC IMPRINTING
We all inherit two copies of every autosomal gene, one copy from our mother and one from our father. Both copies are functional for the majority of these genes; HOWEVER, IN A SMALL SUBSET ONE COPY IS TURNED OFF IN A PARENT-OF-ORIGIN DEPENDENT MANNER. THESE GENES ARE CALLED ‘IMPRINTED’ because one copy of the gene was epigenetically marked or imprinted in either the egg or the sperm.