Podcast
Questions and Answers
What is the term used to describe the disturbances of red and green color vision caused by abnormal visual dyes?
What is the term used to describe the disturbances of red and green color vision caused by abnormal visual dyes?
- Daltonism (correct)
- Deuteranomaly
- Protanomaly
- Ishihara
What is a Y-body?
What is a Y-body?
- A highly fluorescent body in the interphase cell nucleus (correct)
- A part of the X chromosome
- A structure specific to female cells
- An organelle found in the cytoplasm of cells
In North European populations, which type of color vision disturbance is 4-5 times more common than protanopia?
In North European populations, which type of color vision disturbance is 4-5 times more common than protanopia?
- Deuteranopia
- Protanomaly
- Deuteranomaly (correct)
- Protanopia
How many Y bodies are typically found in male cells?
How many Y bodies are typically found in male cells?
What is the term for a person who can see correctly but carries the gene for a type of color vision anomaly?
What is the term for a person who can see correctly but carries the gene for a type of color vision anomaly?
What is the term for the genetic cross between a daughter with protanomaly and a son seeing correctly with deuteranomaly?
What is the term for the genetic cross between a daughter with protanomaly and a son seeing correctly with deuteranomaly?
What is Lyonisation?
What is Lyonisation?
How is lyonisation described?
How is lyonisation described?
What are Ishihara pseudoisochromatic tables used to check?
What are Ishihara pseudoisochromatic tables used to check?
In the Ishihara full test, how many tables are there typically?
In the Ishihara full test, how many tables are there typically?
When does lyonisation occur in female embryonic cells?
When does lyonisation occur in female embryonic cells?
'Deuteranomaly' affects approximately what percentage of men in North European populations?
'Deuteranomaly' affects approximately what percentage of men in North European populations?
What is the purpose of lyonisation?
What is the purpose of lyonisation?
Which cells exhibit Y-drummer's sticks?
Which cells exhibit Y-drummer's sticks?
'Protanopia' affects approximately what percentage of women in North European populations?
'Protanopia' affects approximately what percentage of women in North European populations?
What happens to genes located in the pseudoautosomal region during lyonisation?
What happens to genes located in the pseudoautosomal region during lyonisation?
What is the most common type of mutation detected in Haemophilia B?
What is the most common type of mutation detected in Haemophilia B?
Which type of mutation accounts for 11% of all mutations detected in Haemophilia B?
Which type of mutation accounts for 11% of all mutations detected in Haemophilia B?
What level of factor VIII or IX in plasma is associated with the mild form of haemophilia?
What level of factor VIII or IX in plasma is associated with the mild form of haemophilia?
Which type of bleeding is characteristic of severe haemophilia?
Which type of bleeding is characteristic of severe haemophilia?
What dominates over the deuteranomaly allele Xd1 in terms of colour vision?
What dominates over the deuteranomaly allele Xd1 in terms of colour vision?
How are women affected when they possess an abnormal colour vision gene on each X chromosome?
How are women affected when they possess an abnormal colour vision gene on each X chromosome?
In Haemophilia B, what percentage of all mutations are characterized as gene rearrangements?
In Haemophilia B, what percentage of all mutations are characterized as gene rearrangements?
Which clinical form of haemophilia exhibits severe bleeding as a result of injuries and micro-trauma?
Which clinical form of haemophilia exhibits severe bleeding as a result of injuries and micro-trauma?
What is the inheritance pattern when a female carrier and a healthy man have children?
What is the inheritance pattern when a female carrier and a healthy man have children?
What happens when an ill man (hemizygous) has children?
What happens when an ill man (hemizygous) has children?
What is the phenotype of hemizygous men and heterozygous women with a mutated gene?
What is the phenotype of hemizygous men and heterozygous women with a mutated gene?
What is the likelihood that sick women (heterozygotes) pass the mutant gene to both daughters and sons?
What is the likelihood that sick women (heterozygotes) pass the mutant gene to both daughters and sons?
What is the effect of the mutant dominant gene in men?
What is the effect of the mutant dominant gene in men?
What is the phenotype of XAXA genotype in women?
What is the phenotype of XAXA genotype in women?
In the inheritance of sex-linked dominant traits, what is the phenotype of XAY genotype in men?
In the inheritance of sex-linked dominant traits, what is the phenotype of XAY genotype in men?
What is the genotype and phenotype of XaXa individuals?
What is the genotype and phenotype of XaXa individuals?
What is a useful feature of fruit flies in genetic studies?
What is a useful feature of fruit flies in genetic studies?
How is the human karyotype classified?
How is the human karyotype classified?
According to the classical division, which group do chromosomes 1-3 belong to?
According to the classical division, which group do chromosomes 1-3 belong to?
In human karyotyping, how are autosomes arranged following the rules?
In human karyotyping, how are autosomes arranged following the rules?
Which feature of chromosomes is used for their classification into groups A to G?
Which feature of chromosomes is used for their classification into groups A to G?
What system describes the rules for recording cytogenetic test results?
What system describes the rules for recording cytogenetic test results?
How are chromosomes stained in human karyotyping using Giemsa reagent?
How are chromosomes stained in human karyotyping using Giemsa reagent?
What is the term used to describe the giant chromosomes in fruit fly salivary gland cells?
What is the term used to describe the giant chromosomes in fruit fly salivary gland cells?
What type of inheritance is described as the transmission of traits from father to son?
What type of inheritance is described as the transmission of traits from father to son?
In the inheritance of recessive sex-linked traits, what is the phenotype of individuals with the genotype XAXa?
In the inheritance of recessive sex-linked traits, what is the phenotype of individuals with the genotype XAXa?
In the case of female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to daughters and sons?
In the case of female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to daughters and sons?
What term describes individuals who have only one X chromosome and one copy of each gene linked to the X chromosome?
What term describes individuals who have only one X chromosome and one copy of each gene linked to the X chromosome?
In the inheritance of sex-linked dominant traits, what is the phenotype of individuals with the genotype XAY?
In the inheritance of sex-linked dominant traits, what is the phenotype of individuals with the genotype XAY?
What is the genotype of Illman?
What is the genotype of Illman?
What is the term for individuals with only one copy of a particular gene on the sex chromosomes?
What is the term for individuals with only one copy of a particular gene on the sex chromosomes?
What is the genotype of Healthywoman?
What is the genotype of Healthywoman?
In the inheritance of sex-linked dominant traits, what is the expected phenotype of a female with the genotype XDXd1?
In the inheritance of sex-linked dominant traits, what is the expected phenotype of a female with the genotype XDXd1?
When an Illwoman and Healthyman have offspring, what percentage of sons will be ill?
When an Illwoman and Healthyman have offspring, what percentage of sons will be ill?
When a woman who is a carrier for a recessive sex-linked trait has a son, what is the probability that the son will inherit the mutated gene?
When a woman who is a carrier for a recessive sex-linked trait has a son, what is the probability that the son will inherit the mutated gene?
What is the genotype of a female carrier of the mutated gene for hemophilia B?
What is the genotype of a female carrier of the mutated gene for hemophilia B?
For individuals with hemophilia B, what type of mutation accounts for approximately 11% of all identified mutations?
For individuals with hemophilia B, what type of mutation accounts for approximately 11% of all identified mutations?
When a hemizygous man with haemophilia A has children with an Illwoman, what percentage of daughters are expected to be healthy carriers?
When a hemizygous man with haemophilia A has children with an Illwoman, what percentage of daughters are expected to be healthy carriers?
If a woman carries an abnormal color vision gene on each of her X chromosomes, what is her visual perception like?
If a woman carries an abnormal color vision gene on each of her X chromosomes, what is her visual perception like?
What is the inheritance pattern when an ill man (hemizygous) has daughters?
What is the inheritance pattern when an ill man (hemizygous) has daughters?
In the inheritance of sex-linked recessive traits, what is the phenotype of XaXa genotype in women?
In the inheritance of sex-linked recessive traits, what is the phenotype of XaXa genotype in women?
What is the phenotype of hemizygous men and heterozygous women with a mutated gene?
What is the phenotype of hemizygous men and heterozygous women with a mutated gene?
When a sick woman (heterozygote) passes the mutant gene, what is the likelihood that her sons will inherit it?
When a sick woman (heterozygote) passes the mutant gene, what is the likelihood that her sons will inherit it?
What happens to genes located in the pseudoautosomal region during lyonization in female embryonic cells?
What happens to genes located in the pseudoautosomal region during lyonization in female embryonic cells?
In North European populations, which type of color vision disturbance is about 4-5 times more common than protanopia, protanomaly, and deuteranopia?
In North European populations, which type of color vision disturbance is about 4-5 times more common than protanopia, protanomaly, and deuteranopia?
Which term is used to describe the disturbances of red and green color vision caused by the abnormal amount of visual dyes?
Which term is used to describe the disturbances of red and green color vision caused by the abnormal amount of visual dyes?
What is the term for a person who can see correctly but carries the gene for a type of color vision anomaly?
What is the term for a person who can see correctly but carries the gene for a type of color vision anomaly?
When a female carrier and a healthy man have children, what is the inheritance pattern observed for the mutated gene?
When a female carrier and a healthy man have children, what is the inheritance pattern observed for the mutated gene?
What is the term used to describe the genetic cross between a daughter with protanomaly and a son who sees correctly with deuteranomaly?
What is the term used to describe the genetic cross between a daughter with protanomaly and a son who sees correctly with deuteranomaly?
What is the term for individuals who possess only one copy of a recessive gene on the X chromosome?
What is the term for individuals who possess only one copy of a recessive gene on the X chromosome?
In the inheritance of sex-linked recessive traits, what is the phenotype of females who are carriers of the mutated gene?
In the inheritance of sex-linked recessive traits, what is the phenotype of females who are carriers of the mutated gene?
When a female carrier and a healthy man have children, what is the likelihood that their sons will inherit the mutated gene?
When a female carrier and a healthy man have children, what is the likelihood that their sons will inherit the mutated gene?
What is the term used to describe individuals who carry a gene for a certain trait but do not express the trait themselves?
What is the term used to describe individuals who carry a gene for a certain trait but do not express the trait themselves?
In sex-linked dominant trait inheritance, how are females affected when they possess an abnormal gene on one X chromosome?
In sex-linked dominant trait inheritance, how are females affected when they possess an abnormal gene on one X chromosome?
What is the term for the graphical set of chromosomes typical for a given individual or species?
What is the term for the graphical set of chromosomes typical for a given individual or species?
In the inheritance of sex-linked recessive traits, what is the phenotype of individuals with the genotype X^AX^a?
In the inheritance of sex-linked recessive traits, what is the phenotype of individuals with the genotype X^AX^a?
When an ill man (hemizygous) has children, what is the likelihood that his daughters will be carriers of the mutated gene?
When an ill man (hemizygous) has children, what is the likelihood that his daughters will be carriers of the mutated gene?
In the inheritance of sex-linked dominant traits, what is the phenotype of individuals with the genotype X^AY?
In the inheritance of sex-linked dominant traits, what is the phenotype of individuals with the genotype X^AY?
For female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to their sons?
For female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to their sons?
What is the term for a person who carries the gene for a type of color vision anomaly but can see correctly?
What is the term for a person who carries the gene for a type of color vision anomaly but can see correctly?
In the case of female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to their daughters?
In the case of female carriers (heterozygotes) of a mutated gene, what is the probability of transmitting the gene to their daughters?
Which type of mutation accounts for 11% of all mutations detected in Haemophilia B?
Which type of mutation accounts for 11% of all mutations detected in Haemophilia B?
'Protanopia' generally affects what percentage of women in North European populations?
'Protanopia' generally affects what percentage of women in North European populations?
'Deuteranomaly' typically affects what percentage of men in North European populations?
'Deuteranomaly' typically affects what percentage of men in North European populations?
Flashcards
Genetic Studies of Fruit Flies
Genetic Studies of Fruit Flies
The study of inheritance and variation of traits in organisms using fruit flies as model subjects.
Polytene Chromosomes
Polytene Chromosomes
Large, banded chromosomes found in the salivary glands of fruit flies, helpful for studying gene structure and mutations.
Human Karyotype
Human Karyotype
The organized arrangement of all chromosomes in a cell, showing their number and morphology.
Sex Chromosomes
Sex Chromosomes
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Autosomes
Autosomes
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Chromosome Classification
Chromosome Classification
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Chromatin Y (Y-body)
Chromatin Y (Y-body)
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Lyonisation
Lyonisation
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Sex-Linked Traits
Sex-Linked Traits
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Hemizygous Male
Hemizygous Male
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Heterozygous Female
Heterozygous Female
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Sex-Linked Diseases
Sex-Linked Diseases
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Haemophilia A
Haemophilia A
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Haemophilia B
Haemophilia B
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Color Vision Disturbances
Color Vision Disturbances
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FISH (Fluorescence In Situ Hybridization)
FISH (Fluorescence In Situ Hybridization)
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Marker Chromosomes
Marker Chromosomes
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Structural Aberrations
Structural Aberrations
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Submicroscopic Aberrations
Submicroscopic Aberrations
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Aneuploidy
Aneuploidy
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Polyploidy
Polyploidy
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Down Syndrome
Down Syndrome
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Turner Syndrome
Turner Syndrome
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Klinefelter Syndrome
Klinefelter Syndrome
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XYY Syndrome
XYY Syndrome
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Fruit Fly Genetics
Fruit Fly Genetics
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X Inactivation
X Inactivation
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Sex-Linked Inheritance
Sex-Linked Inheritance
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Hemizygosity
Hemizygosity
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Study Notes
Genetic Studies of Fruit Flies
- Fruit flies are useful in genetic studies due to:
- Presence of polytene (giant) chromosomes in salivary gland cells
- High frequency of gene mutations affecting various morphological features
Human Karyotype
- Human karyotype consists of 23 pairs of chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes (heterosomes)
- X and Y chromosomes are classified as sex chromosomes
- Sex chromosomes are arranged at the end of the karyotype, following the size and centromere position
Chromosome Classification
- Chromosomes are classified into seven groups (A to G) based on:
- Length
- Centromere position
- Table 1 shows the classical division of human chromosomes
Chromatin Y
- Chromatin Y (Y-body) is a condensed, heterochromatic part of the long arms of Yq12
- Visualized by the fluorescent method in the interphase cell nucleus
- Number of Y bodies is equal to the number of Y chromosomes
- Found in 30-50% of studied male cells, including sperm, lymphocytes, and oral epithelial cells
Lyonisation
- Lyonisation is the process of inactivation of one X chromosome in female cells
- Inactivation is:
- Independent
- Random
- Irreversible
- Compensatory mechanism to balance the level of gene expression on sex chromosomes
Inheritance of Sex-Linked Traits
- Inheritance patterns of sex-linked traits:
- Hemizygous men and heterozygous women both get ill
- Heterozygous women with a mutated gene usually have a mild form of disease
- Hemizygous men do not pass the disease to their sons, but all daughters will be carriers
- Sick women (heterozygotes) pass the mutant gene to both daughters and sons with 50% probability
Haemophilia
- Haemophilia A and B are recessive sex-linked diseases
- Caused by mutations in the genes F8C and F9, respectively
- Frequency of occurrence:
- Haemophilia A: 1:10,000 to 1:20,000 births
- Haemophilia B: 1:30,000 births
- Clinically, Haemophilia A and B do not differ from each other, symptoms appear in early childhood
Colour Vision
- Colour vision disturbances are caused by point mutations within the deutan gene
- In North European populations, red and green colour vision disturbances affect:
- About 8% of men
- About 0.5% of women
- Deuteranomaly is 4-5 times more common than protanopia, protanomaly, and deuteranopia
FISH Technique
- FISH (Fluorescence In Situ Hybridization) is a cytogenetic technique to detect a specific DNA sequence in genetic material
- Uses fluorescent DNA probes to identify specific DNA sequences
- Applications:
- Identification of additional genetic material (marker chromosomes)
- Evaluation of structural aberrations
- Detection of submicroscopic aberrations
- Rapid detection of aneuploidy/polyploidy in pre- and postnatal diagnosis
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Description
Test your knowledge on the inheritance patterns of sex-linked dominant traits, including scenarios involving female carriers and ill men. Learn about the different outcomes for sons and daughters based on the genetic makeup of the parents.
