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Chapter 5The inheritance of single-gene differences
• Inheritance patterns• Human pedigree analysis• Inheritance of organelle genes
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The segregations of chromosomes at meiosisduring gamete production lead to preciseratios of genotypes and phenotypes in theprogeny. Segregation of the alles B = black,and b = brown in mice.
Inheritance patterns
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The law of equal segregationfungal tetrads for segregation analysis
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An A/a meiocyteundergoes meiosis,resulting in an equalnumber of A and aproducts.
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Mendel, originator of thegene concept
pure lines,statistics,analysis of second and third generations
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Phenotypes
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Crossing
complete flowers
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A monohybrid cross (self)
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Test cross
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Autosomal and Sex-linked Genes
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1/2 X/Y1/2 X/XAll X
1/2 Y1/2 XGametes
Eggs
Sperm
The numerical equality of the two sexes isbased on equal segregation at meiosis.
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Red-eyed and white-eyed Drosophila.The w (white) gene is located on the X chromosome of Drosophila.
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Reciprocal crosses involving the X-linked w gene of Drosophila
White female Red male
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Message
The results of reciprocal crosses involving sex linked genes(differential region of sex chromosomes) are different.
Different phenotypic ratios in male and female progeny arediagnostic for sex linkage.
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Calico cat
Schematic diagram illustrating random X chromosome inactivation. The inactivation isbelieved to occur at about the time of implantation. A calico cat, with orange (O) andblack (o) alleles of a pigmentation gene on the X chromosome. The regions of differentcolor correspond to one or the other X chromosome being active.
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X chromosome inactivation in mammals
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Human Pedigree Analysis
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Pedigree of a rare recessive phenotype (recessive allele a)
note:
individuals II/(1) andII(5) are assumed to beAA (rare allele frquency ina population);
the genotype of someindividuals can not bedetermined. Suchindividuals are indicatedby A/-.
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Genetics and molecular biology of albinism
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Pedigree of a rare dominant phenotype (dominant allele A). All genotypes can be deduced.
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Pedigree of the human ability to taste the chemical phenylthiocarbamide PCP.These phenotypes constitute a genetic dimorphism, defined as the presence of twocommon forms of a character. In this case, none of the two alleles is rare, as is often thecase with alleles that case genetic disorders (see previous pedigree).
Human polymorphisms
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Pedigree of a X-linked recessive allele.
Only males show thephenotype. In the nextgeneration, the sons do nothave that allele, however,the daughters carry therecessive allele.
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Hemophilia in the British royal family
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Pedigrees of an X-linked dominant disorders
Daughters of a male expressingan X-linked dominant phenotype,will all show the phenotype
Females with an X-linkeddominant phenotype usually areheterozygous, will all show thephenotype
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Inheritance of Organelle GenesCytoplasmatic Inheritance
Mitochondrial and plastidic genes are often inherited maternally
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Leaf variegation in Mirabilis jalapa
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