Chromosomal Patterns of Inheritance

Mader: Biology 8th Ed.

Outline

X-Linked Alleles Human X-Linked Disorders Gene Linkage Crossing-Over Chromosome Map Changes in Chromosome Number Changes in Chromosome Structure Human Syndromes
Mader: Biology 8th Ed.

Chromosomal Inheritance

All but one pair of chromosomes in males and females are the same. Autosomes - Nonsex chromosomes The different pair, sex chromosomes, determines the sex of an individual. X-linked (sex-linked) is the term used for genes carried on the X chromosome.

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X-Linked Alleles

X-linked alleles have a different pattern of inheritance than alleles on autosomes because the Y chromosome is blank for these alleles. Inheritance of a Y chromosome cannot offset the inheritance of an X-linked recessive allele.

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Drosophila

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Human X-Linked Disorders

Color Blindness In humans, color vision receptors in the retina are three different classes of cone cells. Only one type of pigment is present in each class of cone cell. The allele for blue-sensitive is autosomal, but the red- and greensensitive proteins are on the X chromosome.
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Human X-Linked Disorders

Muscular Dystrophy Absence of protein dystrophin allows calcium to leak into muscle cells. Hemophilia Hemophilia A due to lack of clotting factor IX and hemophilia B due to lack of clotting factor VIII.

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Hemophilia Pedigree

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Gene Linkage

The existence of several alleles on the same chromosome. Alleles on the same chromosome form a linkage group because they tend to be inherited together. Can be used to build a linkage map.

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Constructing a Chromosome Map

A linkage map can also be called a chromosome map because it tells the order of gene loci on chromosomes. If crossing-over occurs between two linked alleles of interest, a dihybrid produces four types of gametes instead of two.

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Crossing-Over

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Linkage Data

The percentage of recombinant phenotypes can be used to map chromosomes because there is a direct relationship between the frequency of crossing-over and the distance between alleles. Assumed 1% crossing-over equals 1 map unit.

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Changes in Chromosome Number

Polyploidy Occurs when eukaryotes have more than 2n number of chromosomes. Named according to number of sets of chromosomes. Major evolutionary force in plants. Some estimate 47% of flowering plants are polyploids.

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Changes in Chromosome Number

Monosomy and Trisomy Monosomy (2n - 1) occurs when an individual has only one of a particular type of chromosome. Trisomy (2n + 1) occurs when an individual has three of a particular type of chromosome.

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Down Syndrome

Down syndrome (Trisomy 21) is caused by three copies of chromosome 21.

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Changes in Sex Chromosome Number

An abnormal sex chromosome number is the result of inheriting too many or too few X or Y chromosomes. Nondisjunction during oogenesis or spermatogenesis.

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Sex Chromosome Syndromes

Turner (XO)

Klinefelter (XXY)

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Sex Chromosome Syndromes

Poly-X Females More than two X chromosomes and extra Barr bodies in the nucleus. Range from tall and thin to tall and severely retarded depending on number of X chromosomes. Jacobs Syndrome XXY due to nondisjunction during spermatogenesis. Taller than average
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Changes in Chromosome Structure

Deletion End of a chromosome breaks off, or two simultaneous breaks lead to loss of an internal segment. Translocation Movement of a chromosome segment from one chromosome to another, nonhomologous chromosome.

Mader: Biology 8th Ed.

Changes in Chromosome Structure

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Changes in Chromosome Structure

Duplication Presence of chromosomal segment more than once in the same chromosome. Known to occur as a result of an inversion in which segment is turned 180o.

Mader: Biology 8th Ed.

Changes in Chromosome Structure

Mader: Biology 8th Ed.

Human Syndromes

Deletion Syndromes Williams syndrome - Loss of segment of chromosome 7. Cri du chat syndrome (cats cry) - Loss of segment of chromosome 5.

Mader: Biology 8th Ed.

Review

X-Linked Alleles Human X-Linked Disorders Gene Linkage Crossing-Over Chromosome Map Changes in Chromosome Number Changes in Chromosome Structure Human Syndromes
Mader: Biology 8th Ed.

Mader: Biology 8th Ed.