Non-mendelian Inheritance 4.)Fragile X Syndrome (Martin-Bell Syndrome) is an X-linked 1.

)Human Chromosomes–classified according to: length, position

1.)Multiple Alleles–a gene can have more than 2 alleles; diploid mental autistic behavior resulting from a failure to express the FMR1 of centromere, presence or absence of satellites.
individuals have 1 or 2. Individuals have 2 alleles but a population protein required for normal neural development. Genes that encode 2.)International System for Human Cytogenetic Nomenclature
can have many alleles within individual members. Sex-infuenced traits are inherited according to Mendel's principles (ICSN)--each area of chromosome is given a number
2.)H and h Antigens–H gene is epistatic to ABO gene. H protein but are expressed differently in males and females. (lowest=centromere; highest=near telomere).
attaches the A or B protein to the cell surface. hh genotype = no H 5.)Sex-limited–in autosomal traits, the genotypes of males and –Aberrations are oftentimes a result of chromosome nondisjunction
protein, meaning all ABO genotypes appear as type O. females are the same, but phenotypes produced by these genotypes during meiosis.
–Alpha-L-fucosyl residue is associated with H substance. differ in males and females. 3.)Autotetraploids–arise naturally by the spontaneous accidental
3.)Secretors (Se)--persons that produce water soluble anti agents. Errors of Sex Differentiation doubling of 2n genome to 4n genome, or can be induced artificially
Non-secretors (se)--antigens are only alcohol-soluble. (M=Antigen –Errors in development arise as a result of chromosomal through the use of colchicine.
M; MN=Antigen M and N; N=Antigen N) non-disjunction either in meiosis I or II. Disorders in Sexual 4.)Allopolyploids–contain multiple sets of chromosomes derived
–Families where parents are phenotypically MNSs and NS, children Development (DSD) result in atypical chromosomal, gonadal, or from different species. An amphidiploid (double diploid) is fertile.
will either be: 1 MNSs and Ns, and 2 MNs and NSs. anatomical sex development. 5.)Aneuploidy–most trisomies are due to maternal meiosis I
4.)HLA (Human Leukocyte Antigen) LOCUS Major 1.)XYY Jacob (criminal) Syndrome–associated with an increased nondisjunction linked to increased maternal age at the time of
Histocompatibility Complex–cluster of genes located on risk of learning disabilities and delayed development of speech and conception.
chromosome 6. MHC proteins are essential for the acquired immune language skills. –Studies showing the age of parents influences chances of
system to recognize foreign molecules. 2.)Triple X Syndrome–due to nondisjunction of chromosomes during nondisjunction.
5.)Pseudoalleles–closely linked genes which control only 1 trait. In sex cell formation. The mosaic form is due to an abnormal cell 6.)Deletions–occur when chromosomes break and some genetic
Rh incompatibility, babies who survived pregnancy may develop division during the early embryonic stage which leads to an extra X material is lost along the chromosome. Duplications result in extra
kernicterus etc. chromosome in some cells. copies of genetic material from the duplicated segment. Inversion
6.)Maternal/Cytoplasmic/Extranuclear Inheritance–some inherited 3.)Sex Mosaicism–in mosaics, some cell lines are XX, while others does not involve a loss of genetic info but simply rearranges the
traits are determined by DNA molecules. Maternal effect is the may be XY. Such will cause ambiguous expression of sexual linear gene sequence. Translocation is the movement of a
influence on an early embryo’s development thru substance in ovum. characteristics such as pseudohermaphroditism etc. chromosomal segment to a new location in the genome
7.)Genes and the Environment–phenotypic possibilities determined –In pseudohermaphrodites, XX individuals will express male 2 (robertsonian and reciprocal). Insertions is a segment of 1
by the environment. Quantitative traits are controlled by more than degrees characteristics, but will have ovaries and associated ducts. chromosome inserted into another. An isochromosome has two long
one gene loci. XY individuals are females, but will have internal testis and ducts. arms or two short arms. As a result, these abnormal chromosomes
8.)Transgressive Variations–occurs when F2 phenotypes are One form of this condition is androgen insensitivity syndrome have an extra copy of some genes and are missing copies of other
produced that exceed the parental genotypes. Concordance is the (AIS), also called testicular feminization syndrome (TFM). genes. Ring chromosomes may lose the centromere or genetic
percentage of twin pairs that are concordant for a trait. 4.)Androgen Insensitivity Syndrome–a male (XY) does not material near the ends of the chromosome.
–Many polygenic traits that are influenced by the environment are normally respond to testosterone, resulting in a feminine appearance Population Genetics
called multifactorial. (in severe cases: breast development). –concerned with the genetic composition of a population and how it
9.)Biostatistics and Genetics–Mean is the average value of –External feminization syndrome among “sisters”: external changes with time. Any particular gene may occur in slightly different
distribution, variance is the measure of the variability of the genitalia and secondary sex characteristics are feminine but vigina, forms called alleles. Polymorphic (2 or more common alleles).
distribution, standard deviation is the extent to which the mean uterus, and ovaries are absent. Psychologically female. Genetic polymorphism can be used as genetic markers in
represents the entire population, standard error of the sample 5.)True Hermaphrodites–have both testis and ovaries, and the pedigree studies for individual identification (DNA typing).
means represent an estimate of the means of the many samples that external genitalia of both sexes. 1.)Gene Pool–can be described by frequencies of genotypes and
might be taken, standard error of the difference in means 6.)Mixed Gonadal Dysgenesis–combined features of Turner’s alleles in a population. Gene frequency is a proportion of a particular
determines the likelihood that 2 sample means represent genetically syndrome and male pseudohermaphroditism, short stature, karyotype allelic.
different populations. 46XY/45X0. 2.)Mutation–introduces new alleles into populations. Because
10.)Heritability–total phenotypic variation due to genetic differences. 7.)Congenital Adrenal Hyperplasia (CAH)--a female (XX) has mutation rates are small, mutation is a weak force for changing allele
Broad-sense heritability is the proportion of phenotypic variance genitals that look somewhat masculine. In males, CAH results in over frequencies. Mutation combined with one of the other mechanisms of
that is due to genetic variance. Narrow-sense heritability is due to masculinization and premature puberty. evolution can result in changes in allele frequencies in a
additive genetic variance. 8.)Leydig Cell Hypoplasia–inactivation of the luteinizing hormone population. Driving force of adaptive evolution is Natural selection.
11.)Quantitative Trait Loci(QTL)--are genes that control polygenic receptor in males result in female phenotype, ambiguous genitals, 3.)Mutation and Selection–mutant genes are being created by fresh
characteristics. QTL mapping of numerous genetic markers with or gential defects e.g. micropenis and hypospadias. mutation and being removed by natural selection. The coefficient of
molecular techniques is made feasible for many organisms. 9.)Swyer Syndrome–Pure Gonadal Dysgenesis (PDG), or selection is the relative chance of reproductive failure of a
Sex Inheritance hypogonadism in XY males. genotype due to selection.
1.)Environmental Sex Determination–In sequential 10.)5-Alpha Reductase Deficiency–male (XY) appears female 4.)Relative fitness–measures the contribution of each parental
hermaphroditism, each individual animal can be both male and before puberty. After puberty begins, other testosterone-activating genotype.
female, though not at the same time. enzymes become available and the body soon takes on a masculine 5.)Migration–causes gene pools to become more similar and adds
–Formation of cell clones in a cat embryo produces different patches appearance. genetic variations to 2 populations.
of fur in adults. 11.)17B-Hydroxysteroid Dehydrogenase Deficiency–impaired 6.)Random Genetic Drift–is a statistical process of change in allele
–A tortoise-shell cat is a heterozygous female with an X-linked coat androgen and estrogen synthesis in males and females; Isolated 12, frequency in small populations, resulting from the inability of every
color gene. The orange and black patches are due to inactivation of 20-lyase Deficiency–partial or complete inability to produce individual to contribute equally to the offspring. Results from
different alleles in the pigment-producing cells of the body. androgens and estrogens; Aromatase Deficiency–androgen excess continuous small population size, founder effect, and bottleneck
2.)Sex-linked inheritance–Y-linked: genes for maleness (testis and estrogen deficiency in females, results to virilization. Aromatase effect.
determining factor). Holandric genes–hypertrichosis. excess syndrome is the excessive estrogen production 7.)Inbreeding–the form of non-random mating most commonly found
3.)Morgan’s Experiment on Sex-Linkage–males are hemizygous, (feminization in males and hyper feminization in females). to affect genotype frequencies. In human pedigrees,a mating
because they have only one allele for any X-linked characteristic. –The Y chromosome encodes proteins used by all cells in between relatives is called consanguineous mating.
Hemizygosity makes the descriptions of dominance and pseudoautosomal regions (PARs). Femaleness is the “default” 8.)Molecular Evolution–molecular techniques and data offer a
recessiveness irrelevant for XY males. program in sexual development of embryos. number of advantages for evolutionary studies.
–When considering sex-linked traits, the allele on the sex 12.)Endocrine Disruptors–embryos are also subject to an –Different parts of genes evolve at different rates. Those parts of
chromosome is shown as a superscript to the X chromosome and intrauterine environment that can affect the normal development of its genes that have the least effect on protein function tend to evolve at
treated like a Mendelian cross. reproductive system. the highest rates. The idea of molecular clocks is that individual
Chromosomal Aberrations proteins and genes evolve at a constant rate.