Chapter 29: Heredity
Genes and Human Development
genetics: study of mechanism f heredity — basic m=principles of genetics were proposed by
mendel in mid 18000
human diploid number is 46 in all cells except gametes so 23 pairs of homologous
chromosomes
1 pair of sec chrosomosome sthat determmine genetic cell
22 pairs of autosomes
genome: genetic akeuo 2 sets of genetic instructions maternal and paternal
Preparing a KAryotype
- diploid chromosomal complement displayed in homologous pairs
Alleles= PAirs of Genes
- that occur at same locus on homologous cgrosmosome
- DNA sequence can be the same or different
- homozygous alleles are smae for single trait
- heterozygous: alleles are different for single trait
- dominance: 1 allele masks expression of recessive partner
Genotype: genetic makeup of a person for a trait
phenotype: physical expression of genotype
Sexual Sources of Genetic Variation
- each person is genetically unique because of 3 events
- i dependent assortment of chromosomes
- crossover of homologues
- random fertilization of eggs by sperm
Independent Assortment and Chromosome Segregation
- during metaohase of meiosis I the alignment of the 4 chromosomes making up each
ettrad along the center of the center of the cell is completly random
- thisbresults in the random distribution
Crossover of Homologues and Recombination
- genes on same chromosome are linked and can be passed to daughteer cells as one
unit
- during crossover however homologous chromosome can break even between linked
genes and precise exchange of genes can result to recombinant chromosomes
Random Fertilization
- occurs because a single human egg is fertulized by a single sperm in a completely
haphazard basis
- because of independent assortment and random fertilization an offspring represents 1
out of 72 trillion zygote possibilities
Patterns of Inheritance
- few phenotypes cna be traced ato a single gene
- most trauts determined by multiple alleles or by interaction of severa; gene pairs
- inheritance involves an interaction between dominant and recessive alleles
- punnett square
Dominant Recessive Inheritance
- dominant traits include widows peaks freckles dimples
- genetic disorders caused by dominant genes are uncommon because lethal dominant
genes are always expresses
- result in death of the embryo fetus or child behpre reproductive age
- an exception is huntngtons disease which is lethal to a fetus if homozygous for the
dominant gene
- but if the person is heterozygous for the gene theu will pass it on to ½ of their offspring
— because it is cuased by a delayed action gene that is not expressed until about age
40 (survives long enough to reproduce)
Recessive Traits
- include some desirable condotions such as normal vision
- recessive genetic disorders are more frequent than those caused by dominant genes
- individual that are heterozygous for the yrait do not express trauts can survibve
- oass the trauts
- albinis , cystic fibrosis, TAs ASachs disease
- Incomplete Dominance
- heterozygous individuals intermediate phenotype they may have symptoms but usually
not as intense as those experienced by homozygous individal;
- sickling gene
- SS normal hemoglobin made
- Ss su=ickle cell trait
- ss sickle cell anemia
Multiple Allele Inheritanve
- allow more than 2 allele formes
- blood typing
Sex Linked Inheritance
- inheritaed traits determined by genes on sex chromosomes
- X nay have 2500 genes including many that may code for nonsexual characteristics
- Y chroomosome carry about 78 genes
- X linked genes are found only in X chromosome
- red green colorblindness
- hemophilia
Polygene Inheritance
- results in a continuous or quantitative phenotypuc variations between 2 extremes
- depends on several different gene airs at different locations acting tigether
- eg skin color eye color height
Environmental Factors and GEne Expression
- in many situations, environment can override or influence gene exressuob’maternal
factirs eg drugs oathgens cna alter normal gene exoressuib during embryonic
development
- poor nutrition can affect brain growth body development height
- childhood hormonal deficits can lead to abnormal skeletal growth and proportions
Nontraditional Inheritance
- is the result of control mechanism outside of coding porton of DNA and the
chromosomes entirely
- RNA- only genes are found throughout the non-protein coding DNA and code for RNAs
that regulayte gene expression
- microRNAs and short interfering RNA can help control transposons genes taht tend to
replicate themselves by disabling or hyperactivating them eg cobtrol timing of apoptosis
furing development
- msuch of the individual complexity seen in the result of small RNAs control gene
expression
Epigenetic MArks
0 are proteuns and chemical groups that bind to and around DNA —
GEnetic Screeing, Cunseling and Theraphy
0 when 1 of the parents of a developing embryo displays a recessive disorder it is important to
determine id the other partner is a heterozygote and thus a carrier for that trait
tracing back through family histories
blood tests both simple anf more sophistiphicated chemical yesys
newborns are routinely screened for several genetic disorder including congenital hip dysplasia,
imperforate anus, PKU, abd other metabolic disorders
adulst may also hebscreened if they are childreb of parents with Huntingtons disease
- feteal testng when therenis known risl
- amniocentesis 0 a needle is inserted into the amniotic sac to withraw amniotic flyid for
testing
- chorionic villi sampling (CVS) 00 suctions off biys of the chorionic villi frok the placenta
for karyotyping
for example a woman prenant age 35 may test if a baby has trisomy 21 (DOwn syndrome)
HUman Gene Theraphy
- may alleviae or cure disorders
- genetic engineering has potential to replace defective gene including
- defective cells cna be infected wuth genetically genetically engineered virus containing
functioning gene
- or the corected gene can be injected directly into cells
- prohibitively expensive as well as controversial many ethical religois and societal
questions
