here's a little chart of some of the more common inherited disorders, this definitely is not a comprehensive list!

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here's a little chart of some of the more common inherited disorders, this definitely is not a comprehensive list!
hello all! here's the final few of inheritance patters. please excuse my bunny drawings.
chromosomal mutations
non-disjunction:
if non-disjunction takes place in meiosis 1, all four cells will be aneuploids (have abnormal chromosome numbers) * two cells will be monosomic (n-1) and two will be trisomic (n+1)
if non-disjunction takes place in meiosis 2, 2 cells will be normal (n), 1 cell monosomic, and 1 cell trisomic
polyploidy: having more than 2 chromosome sets (ex: triploid - 3N)
deletion: entire fragment of chromosome is lost
duplication: entire fragment of chromosome is duplicated on the chromosome
inversion: part of chromosome reverses its orientation
translocation: one part of a chromosome is attached to another part of a different chromosome
down syndrome (Trisomy 21): presence of all or part of an extra chromosome 21
XXY: Klinefelter syndrome - phenotypically male but are sterile with reduced testes size and enlarged breasts
XO: Turner syndrome - phenotypically female, but lack of development of secondary female characteristics
Fragile X: abnormal X chromosome causes mental retardation and autism
autosomal genetic disorders
RECESSIVE INHERITED DISORDER - * must receive both non-functional copies from parents * affected individual is homozygous recessive
albinism: lack of pigment in skin/eyes/hair; may lead to skin cancers cystic fibrosis: defective/absent chloride channel protein in membranes, causing buildup of mucus in lungs - person is prone to bacterial infections
tay-sachs disease: defective/absent lipase enzyme in brain - predominant in Jewish population
sickle cell disease: defective hemoglobin protein - mainly affects African-American population
DOMINANTLY INHERITED DISORDER - * absence or malfunction of protein * must receive at least one non-functional copy from one parent * affected individual is a heterozygote (Aa) or homozygous dominant (AA) achondroplasia: dwarfism
huntington's disease: degenerative breakdown of nervous system
non-mendelian genetics
incomplete dominance: offspring has a phenotype between that of both parents * NOT a blending hypothesis!! ex: red x white = pink
codominance: both alleles are expressed at the same time ex: MN blood system has three combinations:
MM - homozygous dominant - only produces M antigen on surface of RBC
MN - heterozygote - produces M and N antigens
NN - homozygous recessive - only produces N antigen on cell surface
multiple alleles: many different alleles can control the expression of a character
pleiotropy: one gene causes multiple different phenotypic effects on an organism ex: the human disease PKU can cause mental retardation, hair loss, and skin pigmentation changes
epistasis: one gene affecting expression of another gene
phenotype ratio usually 9:3:4
polygenic inheritance: two or more genes affecting one phenotype * leads to a bell curve distribution of phenotypes ex: skin colour
pedigree analysis: visual depiction of inheritance patterns in multiple family generations - if two people have an unaffected child, it must be a dominant pedigree - if two unaffected people have an affected child, it must be a recessive pedigree - if every affected person has an affected parent, it is a dominant pedigree (no skipping of generations) - dominant traits never skip generations - squares are male, circles are females - mating is usually indicated by the connection with a line - filled in circles indicate an affected person
sex linked dominant: all females descending from affected males have the diseased sex linked recessive: no male carriers, possibly skips generations autosomal recessive: carriers are present, so it skips generations - 50% males and females affected autosomal dominant: no carries or skipping of generations - 50% of males and females affected
using the laws of probability in genetics
the law of multiplication: - independent events are governed by this - for genes that are linked, the law of multiplication cannot be followed ex: AaBbCc x AabbCC
Aa x Aa -1/2 Aa, 1/4 aa, 1/4 AA //// AabbCC = (1/2)(1/2)(1/2) = 1/8
Bb x bb -1/2 Bb, 1/2 bb //// aabbCc = (1/4)(1/2)(1/2) = 1/16
Cc x CC - 1/2 Cc, 1/2 CC //// (1/4)(1/2)(1/2) = 1/16
genetic crosses
monohybrid crosses: cross that tracks the inheritance pattern of a single character ex: in pea plants, tall (T) plants are dominant to short (t) plants * there are 3 allele combinations: TT, Tt, or tt
test cross: determines whether the dominant parent is homozygous dominant or a heterozygote. * always cross the dominant parent to a homozygous recessive
Law of Independent Assortment: observed with dihybrid cosses or crosses between two different characters * alleles assort independently from each other - dominant alleles can therefore combine with recessive alleles
heredity
character: heritable feature ex: hair colour
trait: variant of a character ex: blonde hair, red hair
allele: alternative forms of a gene ex: tall plants (T), short plants (t)
dominant allele: fully expressed
recessive allele: is not expressed if there is a dominant allele present
genotype: genetic makeup of an organism
phenotype: physical appearance of an organism
Gregor Mendel: - "father of genetics" - worked on genetic crosses of pea plants Law of Segregation: separation of alleles into gametes