Lec 1 MCQ - Inheritance Patterns Quiz

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Which term refers to all of the hereditary information that an organism has encoded in its DNA?

Genome (correct)

Chromosome

Incomplete dominance

Dominant

What is a threadlike structure of DNA and protein found in the nucleus of most living cells called?

Incomplete dominance

Chromosome (correct)

Dominant

Genome

How many pairs of chromosomes do human cells have?

23 (correct)

24

22

46

What is the term used to describe the concept where one allele masks the expression of another allele?

Dominant (C) Signup and view all the answers

What is the term used to describe the concept where the phenotype of a heterozygous individual is intermediate between the phenotypes of the two homozygous individuals?

Incomplete dominance (A) Signup and view all the answers

What is the term used to describe the percentage of individuals with a particular genotype who show the expected phenotype?

Penetrance (A) Signup and view all the answers

Which of the following best describes a gene?

A unit of heredity responsible for a character/trait of an offspring (B) Signup and view all the answers

What is the term for a gene with identical alleles on both homologous chromosomes?

Homozygous (C) Signup and view all the answers

Which of the following best describes phenotype?

Observable physical or biochemical characteristics of an organism (B) Signup and view all the answers

What is the term for a specific part or element of the total phenotype?

Trait (C) Signup and view all the answers

Which of the following best describes Mendelian characters?

Specific identifiable traits that show a clear pattern of inheritance (A) Signup and view all the answers

What is the term for the extent to which a phenotype/trait is manifest when the appropriate genotype is present?

Penetrance (A) Signup and view all the answers

Which one of the following best describes incomplete penetrance?

The phenotype only expressed in a fraction (%) of the population with the genotype (B) Signup and view all the answers

What is the definition of variable expressivity?

A range of symptoms displayed in individuals with the same fully penetrant genotype (C) Signup and view all the answers

What is the difference between penetrance and variable expressivity?

Penetrance is the probability of a genotype/trait being expressed, while variable expressivity is a range of symptoms displayed in individuals with the same fully penetrant genotype. (D) Signup and view all the answers

What is incomplete dominance?

The clinical phenotype of most dominant genetic traits in heterozygotes (Aa) is in-between that of wild-type (aa) and mutant homozygotes (AA) (A) Signup and view all the answers

What is the clinical phenotype of most dominant genetic traits in heterozygotes (Aa) in incomplete dominance?

In-between that of wild-type (aa) and mutant homozygotes (AA) (B) Signup and view all the answers

What is the result of homozygosity for a disease-causing mutation (AA) with a dominant pattern of inheritance?

Much more severe clinical phenotype (C) Signup and view all the answers

What is an example of incomplete dominance?

Achondroplasia (D) Signup and view all the answers

What is the clinical phenotype of homozygosity for FGFR3 mutation (FF) in Achondroplasia?

Stillborn/early death due to respiratory failure (underdeveloped rib cage) (A) Signup and view all the answers

Which one of the following is an example of an autosomal dominant disease?

Huntington Disease (B) Signup and view all the answers

Which one of the following is an example of an X-linked recessive disease?

Hemophilia (D) Signup and view all the answers

Which one of the following is an example of a polygenic/multifactorial trait?

Height (D) Signup and view all the answers

Which of the following is a characteristic of Klippel-Feil Syndrome?

Decreased range of motion in the thoracic spine (D) Signup and view all the answers

What is the difference between hereditary and congenital disorders?

Hereditary disorders are caused by genetic mutations, while congenital disorders are present at birth (D) Signup and view all the answers

What is the term for a gene with identical alleles on both homologous chromosomes?

Homozygous (D) Signup and view all the answers

What is the term used to describe the concept where the phenotype of a heterozygous individual is intermediate between the phenotypes of the two homozygous individuals?

Incomplete dominance (A) Signup and view all the answers

Which technique is used to visualize the location of specific nucleotide sequences and determine if a sequence is present on a chromosome?

Fluorescent In Situ Hybridization (FISH) (D) Signup and view all the answers

What is the main purpose of Multiplex FISH (M-FISH)?

To paint whole chromosomes (C) Signup and view all the answers

Which type of structural chromosome abnormality involves the deletion of a part of a chromosome?

Deletion (A) Signup and view all the answers

What is the main characteristic of large deletions (>5 Mb)?

They have severe effects and are often lethal (C) Signup and view all the answers

Under which category of structural chromosome abnormalities do large deletions (>5 Mb) fall?

Unbalanced (B) Signup and view all the answers

Are large deletions (>5 Mb) clinically relevant?

Yes (A) Signup and view all the answers

What is the heritability of structural chromosome abnormalities?

They are heritable only if present in the germ line (A) Signup and view all the answers

Which type of structural chromosome abnormality involves a change in chromosome structure caused by breakage and abnormal realignment?

Translocation (D) Signup and view all the answers

What is the prevalence of structural chromosome abnormalities in births?

1 in every 375 births (D) Signup and view all the answers

Which technique is used to detect small chromosomal rearrangements and paint whole chromosomes?

Multiplex FISH (M-FISH) (C) Signup and view all the answers

Which type of chromatin is associated with active gene expression?

Euchromatin (C) Signup and view all the answers

What is the purpose of staining chromosomes with Giemsa?

To visualize and differentiate chromosomes (B) Signup and view all the answers

Which technique is used to identify chromosomes by banding patterns?

Conventional Cytogenetics (B) Signup and view all the answers

What is the purpose of the International System for Human Cytogenetic Nomenclature (ISCN)?

To name gross chromosomal abnormalities (C) Signup and view all the answers

What do the letters 'p' and 'q' represent in the International System for Human Cytogenetic Nomenclature (ISCN)?

Small region near the centromere and large region near the centromere (C) Signup and view all the answers

How are chromosome regions counted in the International System for Human Cytogenetic Nomenclature (ISCN)?

From the centromere to the telomere (C) Signup and view all the answers

What is the purpose of a karyotype?

To visualize and differentiate chromosomes (D) Signup and view all the answers

What is the resolution limitation of conventional cytogenetics?

Detects gross chromosomal changes (>5 Mb) (D) Signup and view all the answers

Which cells are commonly used for cytogenetic analysis?

Chorionic villi or amniotic fluid (D) Signup and view all the answers

What is the purpose of chemical preparation in cytogenetics?

To arrest cells and lyse nuclei (D) Signup and view all the answers

Lec 1 MCQ - Inheritance Patterns Quiz

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Questions and Answers

Which term refers to all of the hereditary information that an organism has encoded in its DNA?

What is a threadlike structure of DNA and protein found in the nucleus of most living cells called?

How many pairs of chromosomes do human cells have?

What is the term used to describe the concept where one allele masks the expression of another allele?

What is the term used to describe the concept where the phenotype of a heterozygous individual is intermediate between the phenotypes of the two homozygous individuals?

What is the term used to describe the percentage of individuals with a particular genotype who show the expected phenotype?

Which of the following best describes a gene?

What is the term for a gene with identical alleles on both homologous chromosomes?

Which of the following best describes phenotype?

What is the term for a specific part or element of the total phenotype?

Which of the following best describes Mendelian characters?

What is the term for the extent to which a phenotype/trait is manifest when the appropriate genotype is present?

Which one of the following best describes incomplete penetrance?

What is the definition of variable expressivity?

What is the difference between penetrance and variable expressivity?

What is incomplete dominance?

What is the clinical phenotype of most dominant genetic traits in heterozygotes (Aa) in incomplete dominance?

What is the result of homozygosity for a disease-causing mutation (AA) with a dominant pattern of inheritance?

What is an example of incomplete dominance?

What is the clinical phenotype of homozygosity for FGFR3 mutation (FF) in Achondroplasia?

Which one of the following is an example of an autosomal dominant disease?

Which one of the following is an example of an X-linked recessive disease?

Which one of the following is an example of a polygenic/multifactorial trait?

Which of the following is a characteristic of Klippel-Feil Syndrome?

What is the difference between hereditary and congenital disorders?

What is the term for a gene with identical alleles on both homologous chromosomes?

What is the term used to describe the concept where the phenotype of a heterozygous individual is intermediate between the phenotypes of the two homozygous individuals?

Which technique is used to visualize the location of specific nucleotide sequences and determine if a sequence is present on a chromosome?

What is the main purpose of Multiplex FISH (M-FISH)?

Which type of structural chromosome abnormality involves the deletion of a part of a chromosome?

What is the main characteristic of large deletions (>5 Mb)?

Under which category of structural chromosome abnormalities do large deletions (>5 Mb) fall?

Are large deletions (>5 Mb) clinically relevant?

What is the heritability of structural chromosome abnormalities?

Which type of structural chromosome abnormality involves a change in chromosome structure caused by breakage and abnormal realignment?

What is the prevalence of structural chromosome abnormalities in births?

Which technique is used to detect small chromosomal rearrangements and paint whole chromosomes?

Which type of chromatin is associated with active gene expression?

What is the purpose of staining chromosomes with Giemsa?

Which technique is used to identify chromosomes by banding patterns?

What is the purpose of the International System for Human Cytogenetic Nomenclature (ISCN)?

What do the letters 'p' and 'q' represent in the International System for Human Cytogenetic Nomenclature (ISCN)?

How are chromosome regions counted in the International System for Human Cytogenetic Nomenclature (ISCN)?

What is the purpose of a karyotype?

What is the resolution limitation of conventional cytogenetics?

Which cells are commonly used for cytogenetic analysis?

What is the purpose of chemical preparation in cytogenetics?

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