Autosomal Recessive Inheritance Disorders Quiz
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Questions and Answers

What is the chance that offspring of two carriers of the abnormal gene will inherit two normal genes?

  • 25% (correct)
  • 0%
  • 75%
  • 50%

Which genetic disorder involves a deficiency in a liver enzyme that leads to the inability to process the essential amino acid phenylalanine?

  • Tay–Sachs disease
  • Phenylketonuria (correct)
  • Cystic fibrosis
  • Sickle cell disease

In X-linked recessive inheritance, what is the probability that a woman who is a carrier will have an affected son?

  • 50%
  • 0%
  • 75%
  • 25% (correct)

What is the chance that any two parents will both be carriers of the mutant gene if the couple has consanguinity?

<p>Increased chance (A)</p> Signup and view all the answers

Which genetic disorder involves generalized dysfunction of the exocrine glands?

<p>Cystic fibrosis (A)</p> Signup and view all the answers

In X-linked dominant inheritance, who will inherit the condition from an affected male?

<p>All daughters and no sons (A)</p> Signup and view all the answers

What is the chance of inheriting two abnormal genes in autosomal recessive inheritance?

<p>25% (C)</p> Signup and view all the answers

Which type of genetic disorders are attributed to multifactorial inheritance?

<p><code>Spina bifida</code> (B)</p> Signup and view all the answers

What is not true about X-linked inherited disorders?

<p>Females can be either heterozygous or homozygous for any allele. (A)</p> Signup and view all the answers

What is the specific genetic makeup of an individual usually in the form of DNA?

<p>Genotype (D)</p> Signup and view all the answers

How many chromosomes do human beings typically have?

<p>46 pairs (B)</p> Signup and view all the answers

What do genes control?

<p>Protein production and rate (C)</p> Signup and view all the answers

What is a gene that controls eye color an example of?

<p>Allele (D)</p> Signup and view all the answers

How many chromosomes do offspring receive from each parent?

<p>23 (D)</p> Signup and view all the answers

What does a mutation in a gene lead to?

<p>Abnormal protein production (C)</p> Signup and view all the answers

What determines the observed, outward characteristics of an individual?

<p>Phenotype (C)</p> Signup and view all the answers

What do patterns of inheritance demonstrate?

<p>How genetic abnormalities can be passed on to offspring (B)</p> Signup and view all the answers

What are Mendel’s laws of inheritance named after?

<p>An Austrian naturalist (B)</p> Signup and view all the answers

What do monogenic disorders result from?

<p>Defective single gene (C)</p> Signup and view all the answers

What is the role of the nucleus within the cell?

<p>To store genetic information in the form of chromosomes (B)</p> Signup and view all the answers

What is the function of genes within a chromosome?

<p>To determine specific characteristics of an organism (B)</p> Signup and view all the answers

What is the structure of DNA?

<p>Double helix with alternating sugar and phosphate groups (A)</p> Signup and view all the answers

What are the building blocks of the side pieces of the DNA double helix?

<p>Phosphate and deoxyribose sugar (A)</p> Signup and view all the answers

What is the role of the nitrogenous bases in DNA?

<p>To form the cross connections in the DNA double helix (D)</p> Signup and view all the answers

Where is genetic information stored within the cell?

<p>Nucleus (A)</p> Signup and view all the answers

What does DNA encode the instructions for?

<p>Synthesizing specific proteins needed to maintain life (A)</p> Signup and view all the answers

What are the working subunits of DNA known as?

<p>Genes (A)</p> Signup and view all the answers

What is found within a chromosome?

<p>Genes and chromosomes (A)</p> Signup and view all the answers

What are individual units of heredity of all traits?

<p>Genes (D)</p> Signup and view all the answers

What is the term for when chromosomal abnormalities do not show up in every cell?

<p>Mosaicism (C)</p> Signup and view all the answers

Which type of chromosomal disorder occurs when there is a breakage and loss of a portion of one or more chromosomes?

<p>Deletion (A)</p> Signup and view all the answers

What is the term for the failure of separation of the chromosome pair during cell division?

<p>Nondisjunction (D)</p> Signup and view all the answers

Which syndrome involves a missing or extra sex chromosome and may cause infertility and growth abnormalities?

<p>Turner syndrome (B)</p> Signup and view all the answers

In which type of chromosomal abnormality does a portion of the chromosome break off at two points and is turned upside down and reattached?

<p>Inversion (B)</p> Signup and view all the answers

Which type of chromosomal disorder results in having too much or too little genetic material?

<p>Trisomy (C)</p> Signup and view all the answers

What is the term for the abnormal rearrangement that occurs when a portion of one chromosome is transferred to another chromosome?

<p>Translocation (C)</p> Signup and view all the answers

Which type of chromosomal abnormality involves an entire single chromosome being added?

<p>Trisomy (B)</p> Signup and view all the answers

What causes most chromosomal abnormalities of number to occur?

<p>Nondisjunction (C)</p> Signup and view all the answers

What is the term used for a pictorial analysis of chromosomes, often used in prenatal testing to diagnose genetic diseases?

<p>Karyotype (C)</p> Signup and view all the answers

Which term refers to the specific genetic makeup of an individual, usually in the form of DNA?

<p>Genotype (A)</p> Signup and view all the answers

What refers to one of two or more alternative versions of a gene at a given position on a chromosome?

<p>Allele (D)</p> Signup and view all the answers

How many chromosomes do human beings typically have?

<p>46 (C)</p> Signup and view all the answers

What is the term for the observed, outward characteristics of an individual, determined by genotype and environmental variation?

<p>Phenotype (D)</p> Signup and view all the answers

In autosomal dominant inheritance, what happens if a single gene in the heterozygous state is capable of producing the phenotype?

<p>The mutant gene overshadows the normal gene (C)</p> Signup and view all the answers

What do genes control in an individual?

<p>Outward characteristics (C)</p> Signup and view all the answers

What causes a genetic disorder or familial disorder?

<p>Both a and c (D)</p> Signup and view all the answers

$Ww$ stands for which type of characteristic in terms of allele combination?

<p>Heterozygous (B)</p> Signup and view all the answers

$ww$ stands for which type of characteristic in terms of allele combination?

<p>Homozygous recessive (D)</p> Signup and view all the answers

What is the genetic material found in humans that can replicate itself?

<p>DNA (D)</p> Signup and view all the answers

What are the individual units of heredity of all traits and are organized into long segments of DNA?

<p>Genes (C)</p> Signup and view all the answers

What do genes encode the instructions for synthesizing?

<p>Proteins (D)</p> Signup and view all the answers

What are the side pieces of the DNA double helix made up of?

<p>Deoxyribose and phosphate (D)</p> Signup and view all the answers

What are the cross connections or rungs of the DNA ladder made up of?

<p>Nitrogenous bases (B)</p> Signup and view all the answers

What is the sequence of the base pairs as they form each rung of the DNA ladder referred to as?

<p>Genetic code (A)</p> Signup and view all the answers

What is tightly coiled and packaged in units called chromosomes, housed in the cell’s nucleus?

<p>DNA strands (A)</p> Signup and view all the answers

What does DNA store?

<p>Genetic information (C)</p> Signup and view all the answers

In autosomal recessive inheritance, what is the chance that offspring of two carriers of the abnormal gene will inherit two normal genes?

<p>25% (C)</p> Signup and view all the answers

In X-linked recessive inheritance, what is the probability that a woman who is a carrier will have an affected son?

<p>25% (D)</p> Signup and view all the answers

1.1

<p>Sugar, deoxyribose (C)</p> Signup and view all the answers

What is the role of the nitrogenous bases in DNA?

<p>Attach to the sides and make up the rungs of the ladder (D)</p> Signup and view all the answers

Which type of genetic disorders are attributed to multifactorial inheritance?

<p>Congenital malformations (B)</p> Signup and view all the answers

What are the common types of genetic disorders that follow X-linked recessive inheritance patterns?

<p>Hemophilia and color blindness (A)</p> Signup and view all the answers

What is the chance that any two parents will both be carriers of the mutant gene if the couple has consanguinity?

<p>100% (D)</p> Signup and view all the answers

What is the role of genes within a chromosome?

<p>Determine the observed characteristics of an individual (D)</p> Signup and view all the answers

What are the common types of genetic disorders that follow autosomal recessive inheritance patterns?

<p>Cystic fibrosis and phenylketonuria (A)</p> Signup and view all the answers

What is the term for a condition in which males have only one X chromosome, therefore all the genes on their X chromosome will be expressed?

<p>X-linked dominant inheritance (D)</p> Signup and view all the answers

In X-linked dominant inheritance, what is the chance that both male and female offspring of an affected woman will inherit the condition?

<p>50% (D)</p> Signup and view all the answers

Which term refers to when the chromosomal abnormalities do not show up in every cell; only some cells or tissues carry the abnormality?

<p>Mosaicism (C)</p> Signup and view all the answers

What type of genetic disorder involves a deficiency in a liver enzyme that leads to the inability to process the essential amino acid phenylalanine?

<p>Phenylketonuria (D)</p> Signup and view all the answers

What occurs when a portion of one chromosome is transferred to another chromosome and an abnormal rearrangement is present?

<p>Translocation (C)</p> Signup and view all the answers

Which type of chromosomal disorder involves an entire single chromosome being added?

<p>Trisomy (C)</p> Signup and view all the answers

What is seen when a portion of a chromosome has broken off in two places and formed a circle or ring?

<p>Ring chromosome (B)</p> Signup and view all the answers

What is the most clinically significant structural abnormality involving the rearrangement of genetic material with neither an overall gain nor loss?

<p>Balanced abnormalities (A)</p> Signup and view all the answers

Which of the following involves having too much or too little genetic material due to breakage and loss of a portion of one or more chromosomes?

<p>Deletion (A)</p> Signup and view all the answers

What are gender-specific chromosomal abnormalities that may cause infertility, growth abnormalities, and possibly behavioral and learning problems?

<p>Turner syndrome and Klinefelter syndrome (D)</p> Signup and view all the answers

'Ring chromosomes' are seen when a portion of a chromosome has broken off in two places and formed what shape?

<p>&quot;O&quot; shape or ring (D)</p> Signup and view all the answers

What is the term for the failure of separation of the chromosome pair during cell division, meiosis, or mitosis?

<p>Nondisjunction (B)</p> Signup and view all the answers

Flashcards

Autosomal recessive inheritance

A condition where an individual inherits two copies of a mutated gene, leading to a specific disease.

Autosomal dominant inheritance

A condition where a single mutated gene can cause the disease, even if the other gene is normal.

Nondisjunction

The process where a chromosome pair fails to separate during cell division, resulting in an abnormal number of chromosomes in the daughter cells.

Genotype

The specific genetic makeup of an individual, usually presented as a combination of letters representing alleles.

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Phenotype

The observable characteristics of an individual, resulting from the interaction of genotype and environmental factors.

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Inversion

A process where a segment of a chromosome breaks off and reattaches to the same chromosome but in an inverted orientation.

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Translocation

A chromosomal abnormality where a portion of one chromosome breaks off and attaches to a different chromosome.

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Deletion

A condition where a portion of a chromosome is missing.

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Trisomy

A chromosomal abnormality characterized by the presence of an extra copy of a specific chromosome.

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Karyotype

A pictorial representation of an individual's chromosomes, arranged in pairs according to size and shape, used for diagnosing genetic disorders.

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Phenylketonuria (PKU)

A condition involving a deficiency in a liver enzyme responsible for processing phenylalanine, an essential amino acid.

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Cystic fibrosis

A genetic disorder characterized by generalized dysfunction of the exocrine glands, leading to thick mucus buildup in various organs.

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Tay-Sachs disease

A condition involving the inability to produce or properly function the enzyme hexosaminidase A, leading to nerve cell damage.

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Galactosemia

A genetic disorder where the individual lacks the enzyme necessary to break down galactose, a sugar found in milk.

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Albinism

A condition resulting from a defective gene that affects the production of melanin, a pigment that gives color to skin, hair, and eyes.

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Hemophilia

A genetic disorder affecting the blood's ability to clot properly, leading to excessive bleeding.

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Glycogen storage diseases

A genetic condition characterized by the inability to produce or properly function the enzyme that breaks down glycogen, leading to glycogen accumulation in the liver and muscles.

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Sickle cell disease

A group of genetic disorders that affect the red blood cells and their ability to carry oxygen throughout the body.

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Duchenne muscular dystrophy

A genetic disorder caused by the absence of the dystrophin protein, leading to progressive muscle weakness and degeneration.

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Adrenoleukodystrophy

A genetic disorder where the individual lacks the enzyme needed to break down long-chain fatty acids, leading to problems with brain function and other organ systems.

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BRCA1/BRCA2 mutations

A genetic disorder characterized by the presence of a specific gene mutation that predisposes the individual to developing certain cancers.

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Color vision

The ability to perceive differences among the various shades of a single color, like blue.

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Inheritance

The process by which genes are passed on from one generation to the next.

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Genetics

The study of heredity and the variation of inherited characteristics.

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Allele

A specific version of a gene, located at a particular position on a chromosome.

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Gene

The fundamental unit of heredity, composed of DNA and carrying genetic information.

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Chromosome

Thread-like structures found in the nucleus of a cell, carrying genetic information in the form of DNA.

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DNA

The molecule that carries the genetic instructions for building and maintaining an organism.

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Mitosis

The process by which a cell divides into two genetically identical daughter cells.

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Meiosis

The process by which a cell divides to create gametes (sex cells), each with half the number of chromosomes.

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