Part I

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Genetics and Inheritance

Chapter 29 (pg 1098-1105)

Genes or DNA segments contain the blueprints for protein synthesis and many of these are enzymes that dictate the synthesis of virtually all of the body's molecules.

Genetics:

The nuclei of all human cells (except chromosomes

Genotype

______) contain the diploid # of

Phenotype

Homologous chromosomes – two members of each pair o 22 are autosomal o 23 rd chromosomes are the

Karyotype (figure 29-14) typically shown as homologous chromosome pairs

Gene pairs (alleles)

 alleles (genotype) may code for the same or for alternative forms of a trait

 each of us receives 2 genes:

 homozygous

 heterozygous o if the allele is dominant ,

genetic disorders caused by dominant genes are fairly uncommon o an allele that is recessive o incomplete dominance is a phenotype that is different from phenotypes of homozygous for either allele

• intermediate between homozygous dom and homozygous recess.

• sickling gene (s):

• ss: • Ss: o codominance is a heterozygous allele that shows both traits in its phenotype

•ex: ABO blood type:

I A , I B i

•each receives 2 of these IA and IB are codominant and i is recessive ii = I B I B or I B i =

I A I A or I A i = I A I B =

Even so, genotype doesn’t always affect the phenotype the same way

mainly from the effects of environmental factors, expressivity, and teratogens

Predicting Inheritance (figure 29-15)

Punnett Square

– box diagram to help predict

Simple Inheritance vs Polygenic Inheritance

amount of brown pigment in the iris (determines eye color) is also regulated by polygenes as are intelligence and height.

Genetic Variation : not always 50/50

chance determines the alignment & orientation of the tetrads

in male testes the # of gamete types produced by independent assortment is 2 23 =

8.5 million

1. Gene Recombination a. crossing-over -

each crossover causes recombination of many genes not just 2; many crossovers during synapsis.

b. chromosomal abnormalities -

2. Mutations a. spontaneous mutations

random errors

responsible for increased mortality rates of pre-embryos and embryos carrier –

Sex-Linked Inheritance

• inherited traits determined by genes on sex chromosome are sex linked

XX = XY =

• Y chromosome contains the genes that determine maleness

• X chromosome is large and has more genes

• a gene found only on the X chromosome is said to be sex linked

• for colorblindness which is a recessive x linked disorder:

 male inherits a bad x-linked recessive allele

 the female must have 2 bad X's to express the disorder

X-linked traits passed from mothers to sons

Human Genome Project

- 13 Chromosomes have been completely mapped; 38,000 tentatively identified.

- Began in 1990 to identify the full compliment of our chromosomes

- Disorders and diseases can now be screened for (fig 29-19)

Check out www.ornl.gov/sci/techresources/Human_Genome/home.shtml

and www.ncbi.nlm.nih.gov/genome/guide/human/ for further information

Read Genetic Engineering and Gene Therapy in the Applications Manual

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