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Reference: Urry, L.A., Cain, M.L., Wasserman, S.A., Minorsky, P.V., Jackson, R.B. and
Reece, J.B. 2014.
Campbell Biology in Focus.
Overview
At present, the hereditary factors that Mendel was referring are called
___genes______ and they are located in the _____DNA______.
Genes
What is a gene?
-segments of a DNA on a chromosome that codes for a particular protein
DNA is contained in what structures in the eukaryotic cell? nucleus
Chromosomal Basis of Mendels laws
Chromosome theory of inheritance states that ________________.
1) Mendelian genes have specific loci (positions) on chromosomes
2) Chromosomes undergo segregation and independent assortment
What account for Mendels laws of segregation and independent assortment?
-The behavior of chromosomes during meiosis can account for Mendels laws of
segregation and independent assortment
Law of Segregation - homologous pairing and segregation of homologous
chromosomes during anaphase I leading to segregation of alleles into separate
gametes.
Law of Independent Assortment - the alleles of two or more different genes assort
independently of each other during meiosis such that random combination of the genes
from each pair winds up in the gametes. This occurs because there are various ways
the homologous are aligned in the metaphase plate during metaphase I
Chromosomal Basis of Sex
What are the two sex chromosomes? x, y
2. Y-linked
Examples: hypertricosis
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Practice problem
A man with hemophilia (a recessive, sex-linked condition) has a daughter of normal
phenotype. She marries a man who is normal for the trait. What is the probability that a
daughter of this mating will be a hemophiliac? 0% That a son will be a hemophiliac?
50%
XnY man
P1: normal daughter- XNXn
Genotype
Phenotype in females
Phenotype in males
BB
bald
bald
Bb
non-bald
bald
bb
non-bald
non-bald
Peters father is heterozygous bald, his mother has normal hair but her mothers father
is homozygous bald. What is the chance that Peter will be bald?
Bb x Bb
75% bald
Sex-limited Trait
Feather plumage in chicken is caused by an ___autosomal____________ gene.
Hen-feathering is controlled by a __dominant________ allele expressed in both sexes
Cock-feathering is controlled by a ___recessive_______ allele only expressed in males
Genotype
Phenotype in females
Phenotype in males
hh
hen-feathered
cock-feathered
Hh
hen-feathered
hen-feathered
HH
hen-feathered
hen-feathered
-In female mammals, most diploid cells have only one fully functional
X chromosome.
-One of the two X chromosomes in each cell is randomly inactivated
during embryonic development.
Reason: to compensate for the fact that females have a double
dosage of sex-linked genes than the males.
What is a Barr body? inactive X-> condenses into a Barr body
If a female is heterozygous for a particular gene located on the X chromosome, she will
be a ___mosaic_______ for that character.
The gene for orange and black fur in cat is located in what sex chromosome? X
If B allele is for orange fur and b allele for black fur, what are the genders phenotypes of
the following:
XBY
XbY
XBXB
XbXb
XBXb
o
- b
-o
-b
-o or b if one is inactivated so o & b calico
Genetic disorders
Aneuploiday and polyploidy ( change in chromosome # due to n+1 or n-1) is
characterized by ___abnormal chromosome number______________________ due to
___nondisjuction___________.
ex: 2n=4 then n=2
n+1=3 ; n-1=2
What is nondisjunction?
Meiosis I- homologous chromosomes; sister chromosomes in Meiosis II fail to
separate
-one gamete receives two of the same type of chromosome, and another gamete
receive no copy.
Examples of Aneuploidy in Humans
What are some examples of aneuploidy in humans?
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3. inversion
4. reciprocal translocation
What are some examples of human disorders due to alteration in chromosome
structure? Describe each example.
1. Cri du chat syndrome- deletion on chromosome 5, Symptoms are mental retardation,
a small head with unusual facial features and a cry that sounds like a mewing cat
2. Chronic myelogenous leukemia (CML)- Portion of chromosome 22 switches places
with a small fragment from chromosome 9
-Reciprocal translocation
Extranuclear genes
What are extranuclear genes? How are they inherited?
-Genes found in organelles in the cytoplasm such as mitochondria and plastids.
-Not inherited in mendelian fashion -> they are not distributed by segregating
chromosomes during meiosis.
-Inherited maternally because the zygotes cytoplasm comes from the egg.
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