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52 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Indicate the geotypes of a human male and female with respect to the sex chromosomes. |
Male: XY Female: XX |
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Learning objective |
Describe the Lyon hypothesis and its effects
Define "barr body". Determne the number of Barr bodies associated with a specific genotype. |
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Lyon hypothesis
Define |
In the female, only x chromosome is functional in each somatic cell. |
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Lyon hypothesis
Define |
In the ____, only _______ is ____ in each _________. |
Female one x chromosome functional somatic cell |
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Lyon hypothesis
In the female, only one x chromosome is functional in each somatic cell.
This allows what to occur? |
Dosage compensation
Function (reading) |
So that females have the same quantity of protein product coded fro by the genes on the X chromosomes as do males, even though females have 2X chromosomes and males only ahve one. |
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Lyon hypothesis
Dosage compensation |
Dosage compensation
Females have the same quantitiy of ______ product coded for by the genes on the X chrmosomes as do _____, even though _____ have 2 X chromosoems and ____ only have one. |
protein males females males |
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Lyon hypothesis
Dosage compensation |
Dosage compensation
_______ have the same ____ of protein product coded by the genes on the _______as do males, even though females have ___________________ and males only have ____. |
Females quantitiy X chromosome 2 X chromosomes one |
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Lyon hypothesis
Recap Second X chromosome in female |
Non functional |
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Lyon hypothesis
Second X chromosome in female is nonfunctional
Structure |
Its chromatin remains condensed in interphase cells and is called a Barr Body |
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Lyon hypothesis
Second x chromosome in female is non functional
Structure |
Its _______ remains ______ in ____________ and is ____ a __________ |
chromatin condensed interphase cells caled Barr body |
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Lyon hypothesis
The barr body is found in what sex? |
Female only |
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barr body
Number of barr body in females |
1 |
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Barr body Number of barr body in males |
0 |
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Barr body
Structure |
Condensed chromatin in interphase cells. |
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barr body
Structure |
_________ in ___________. |
Condensed chromatin interphase cells |
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Barr body
Apperance and location |
Darkly stained body in the nucleus of the somatic cells |
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Barr body
Apperance |
Darkly stained body |
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Barr body
Location |
In the nucleus of somatic cells |
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Barr body
Apperance and location |
_________________ in the ____ of the ________. |
Darkly staiend body nucleus somatic cells |
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Barr body
When does inactivation occur? |
Early in embroyonic life |
About 2 days post fertilization |
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barr body
Nature |
Permanent |
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Barr body
Which x chromosome is inactivated? |
Random, either paternal or maternal |
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Barr body
Progeny of the cell with inactivated x chromosome. |
They will all have the same X chromosome (maternal or parternal) inactivated. |
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Barr body
Progeny of the cell with inactivated x chromosome |
They ________ the _________ (________ or ________ ) __________. |
will all have same x chromosome maternal parternal Inacitvated |
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Rule to determine the number of barr bodies |
One less than the number of X chromosome |
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Rule to determine the number of barr bodies |
______ than the _____ of __________ |
One less number x chromosome |
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Number of Barr bodies
Normal female |
1 |
1 active x chromosome and one barr body |
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Number of barr bodies
Normal male |
0 |
Has one active x chromosome and no barr bodies |
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Non-dysjunction
Notes |
Failure of homologous chromosomes to separate properly during meiosis or mitosis. |
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Diseases resulted from nondisjunction of the X or Y chromosomes |
Klinefelter's syndrome Turner's syndrome Trisomy X XYY syndrome |
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Klinefelter's syndrome
Number of chromosomes Cause |
47, XXY |
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Klinefelter's syndrome
Patients usually have one extra _____________ |
X chromosome
Usual genotype? |
XXY |
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Klinefelter's syndrome
XXY
Other variants? |
XXXY |
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Klinefelter's syndrome
Characteristics |
Male phenotype, but have underdeveloped testes and secondary sex characteristics usually infertile |
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Klinefelter's syndrome
Characteristics |
phenotype sex characteristics fertility |
Male phenotype, but have underdeveloped testes and secondary sex characteristics usually infertile |
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Klinefelter's syndrome
Characteristics |
_________, but have _________________ and _________________ usually ________ |
male phenotype underdeveloped testes secondary sex characteristics infertile |
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Klinefelter's syndrome
Characteristics
Notes: incidence |
male phenotype underdeveloped testes secondary sex characteristics infertile
1/1000 live male births |
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Turner's syndrome
Numebr of chromosomes Cause |
45 X |
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Turner's syndrome
Number of chromosome |
1
Genotype |
X |
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Turner's syndrome
Characteristics |
Female phenotype with under-developed ovaries and secondary sex characteristics short stature Usually sterile |
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Turner's syndrome
Characteristics
- phenotype - sex characteristics - height - fertility |
Female phenotype with under-developed ovaries and secondary sex characteristics
short stature
usually sterile |
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Turner's syndrome
Characteristics |
__________ with ________________ and _____________; _________; usually ____________ |
female phenotype under-developed ovaries secondary sex characteristics short stature sterile |
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Turner's syndrome
Characteristics Incidence |
Female phenotype with under-developed ovaries and secondary sex characteristics; short stature; usually sterile
1/5000 |
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Trisomy X
Number of chromosomes Genotype |
47 XXX |
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Trisomy X
Characteristics |
Female phenotype Tendency to be tall and thin Usually normal |
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Trisomy X
Phenotype Height General characteristics |
Female phenotype Tendency to be tall and thin Usually normal |
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Trisomy X
Characteristics |
_______________________ _______ to be ______ and _____ ____________. |
Female phenotype tendency tall thin
usually normal |
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Trisomy X
Characteristics Notes: incidence |
Female phenotyep Tendency to be tall and thin usually normal
1/1000 to 2000 |
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XYY syndrome
Number of chromosomes Genotype |
47 XYY |
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XYY syndrome
Characteristics |
male phenotype Tend to be tall Usually normal, but with increased risk of behavioral problems |
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XYY syndrome
Phenotype Height Problems |
______________ _____ to be _________ ____________, but with ___________ of _________________ |
male phenotype Tend tall usually normal increased risk behavioral problems |
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XYY syndrome
Characteristics Notes: incidence |
male phenotype Tend to be tall Usually normal, but with increased risk of behavioral problems
1/1000 males |
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