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14 - Complex Pattern of Inheritance Notes PPT Part 2

This document discusses human genetics and inheritance patterns. It explains that humans have 23 pairs of chromosomes, including 22 autosomal chromosome pairs and one sex chromosome pair. The sex chromosomes, X and Y, determine gender, with males having XY and females having XX. Some traits, like color blindness, are sex-linked and follow specific inheritance patterns. Nondisjunction can result in disorders caused by an abnormal number of chromosomes, such as Down syndrome. Pedigrees and karyotypes are tools used to study genetics. Linkage maps show the relative locations of genes on chromosomes.

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121 views

14 - Complex Pattern of Inheritance Notes PPT Part 2

This document discusses human genetics and inheritance patterns. It explains that humans have 23 pairs of chromosomes, including 22 autosomal chromosome pairs and one sex chromosome pair. The sex chromosomes, X and Y, determine gender, with males having XY and females having XX. Some traits, like color blindness, are sex-linked and follow specific inheritance patterns. Nondisjunction can result in disorders caused by an abnormal number of chromosomes, such as Down syndrome. Pedigrees and karyotypes are tools used to study genetics. Linkage maps show the relative locations of genes on chromosomes.

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api-375285021
Copyright
© © All Rights Reserved
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Download as PPTX, PDF, TXT or read online on Scribd
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Human Genetics

& Pedigrees
Autosomes and Sex
Chromosomes
 Your body cells have 23 pairs of
chromosomes.
 Homologous pairs of chromosomes have
the same structure.
 For each homologous pair, one
chromosome comes from each parent
 Chromosome pairs 1-22 are autosomes
 Chromosome pair 23 are sex chromosomes
Autosomes
(The Autosomes code for most of the offspring’s traits)

In Humans the
“Autosomes”
are sets 1 - 22
Sex Chromosomes
Sex chromosomes, X and Y,
determine gender in mammals
Males: XY
Females: XX
Males determine gender of
offspring
Sex–linked Traits
Sex-linked traits: traits controlled by genes located on sex chromosomes.
Examples of Sex-linked Traits:
◦ Red-green colorblindness – Inability differentiate between red and green.

◦ Male Pattern Baldness

◦ Hemophilia – Causes the blood not to clot. If individual gets a cut it may take
a long time to clot or internal bleeding may result from a bruise.

◦ Duchenne Muscular Dystrophy – Muscular weakness, progressive


deterioration of muscle tissue, and loss of coordination.
Sex–linked Traits
Colorblindness
In humans, red-green colorblindness is a recessive sex-linked trait (c). It is found on the X chromosome, not
the Y.

Because, males only have one X chromosome, they have a much greater chance of having red-green
colorblindness.

Females would have to be homozygous recessive in order to have red-green colorblindness.

Colorblindness

Normal Mother XCXC


Normal Mother (carrier) XCXc
Colorblind Mother Xc Xc
Normal Dad XCY
Colorblind Dad XcY
Color Blindness In Humans: An X-Linked Trait

Numbers That You Should See If You Are In One Of The Following
Four Categories: [Some Letter Choices Show No Visible Numbers]

Sex-Linked Traits:
1. Normal Color Vision:
A: 29, B: 45, C: --, D:
26

2. Red-Green Color-Blind:
A: 70, B: --, C: 5, D: --

3. Red Color-blind:
A: 70, B: --, C: 5, D: 6

4. Green Color-Blind:
A: 70, B: --, C: 5, D: 2
Pattern Baldness In Humans: A Sex Influenced Trait
In humans, male pattern baldness is a recessive sex-linked trait (b).
It is found on the X chromosome, not the Y.
Male Pattern Baldness

Normal Mother XBXB


Normal Mother (carrier) XBXb
Bald Mother XbXb
Normal Dad XBY
Bald Dad XbY

What are the probabilities for the


children for a bald man and woman
with no history of baldness in the
family?
What is Non disjunction?
Nondisjunction is the failure of homologous chromosomes or sister
chromatids to separate properly during cell division.
There are three forms of nondisjunction:
◦ failure of a pair of homologous chromosomes to separate in meiosis I,
◦ failure of sister chromatids to separate during meiosis II,
◦ failure of sister chromatids to separate during mitosis.
Nondisjunction results in daughter cells with abnormal
chromosome numbers (aneuploidy).
Disorder Type Syndrome

Sickle-cell anemia Autosomal Recessive Blood circulates poorly


List 1
Tay-Sachs disease Recessive Central nervous system
deteriorates in infancy
Cystic fibrosis Recessive Mucus clogs organs,
including lungs,
digestive tract, liver,
and pancreas
Hemophilia Sex-linked (carried on Blood fails to clot
the X chromosome)
Huntington’s disease Autosomal Dominant Muscle control is lost,
uncontrollable spasms
develop, eventually
leads to death
Abnormal chromosome number is usually a result of nondisjunction
List 2 during gamete formation (meiosis)
Disorder Chromosome Description

Down Syndrome or Trisomy 21 #21 47 chromosomes, intellectual disability,


heart defects, respiratory infections

Edwards Syndrome or Trisomy 18 #18 47 chromosomes, severe intellectual


disability, characteristic malformations

Turner’s Syndrome Single X in female 45 chromosomes, female infertility, no


(Monosomy – missing secondary sex characteristics, affects
chromosome, zygote dies) females, may not reach full sexual
maturity
Kleinfelter’s Syndrome Extra X in male 47 chromosomes, male infertility, small
testes, may have female type
characteristics
Pedigree
Pedigree: a diagram or family tree
of genetic inheritance.
Used by geneticists to map
genetic traits
I.

II.

III.

IV.

Recessive allele, transmitted from generation to generation.


Karyotype
Karyotype: a picture of a persons
chromosomes arranged in pairs.
Can reveal whether a person has
correct number of chromosomes
Used to estimate the distances
between genes on a chromosome
Boy or Girl? The Y Chromosome “Decides”

Y chromosome
X chromosome
Linkage maps
Linkage maps: maps of the relative locations, or loci, of genes on a
chromosome.
Farther apart two genes are located, the more likely they will be
separated during meiosis (crossing over) = increased genetic variation

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