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What is an abnormal number of chromosomes called?
Aneuploid
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What is having an exact multiple of normal chromosomes called?
Euploid
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What is 1/2 the normal of chromosomes called?
Haploid
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What is the most common cause of Down Syndrome?
Maternal nondisjunction due to maternal advanced age.
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What is the name of the disorder resulting in XXY?
Klinefelter syndrome
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What is the most common cause of genetic familial mental retardation?
Fragile X
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Is cystic fibrosis autosomal dominant or recessive?
Autosomal Recessive
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Criduchat syndrom is the deletion of which chromosome?
5
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In order for sickle cell to appear in an offspring, both parents must have at least the trait for the disease. This means that SCD is what?
Autosomal Recessive
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Monosomy and trisomy are examples of which chromosomal abnormality?
Aneuploidy
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You are working in a genetics clinic. Today you are interviewing a client who tells you she that a single-gene disorder is present in her family. She and her sister are unaffected, but her two brothers have it. Identify the single-gene disorder as autosomal dominant, autosomal recessive or X-linked.
X-linked (because only boys) and Autosomal recessive (if both parents carried the trait).
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Describe two autosomal dominant disorders.
- 1. Marfan: President Lincoln, long limbs/fingers, connective tissue disorder so organs, weak aorta, dysfunctional heart valves and cardio lesions.
- 2. Huntington: affects neurologic, mental deterioration around age 40, involuntary movement of arms legs. "The retarted 40 year old hunter liked to dance on Chromosome 4"
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For a child to inherit an automsomal recessive disorder, which parent must have the deffective recessive gene?
Both
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Autosomal Dominant disorders affect structural and regulatory proteins or enzymes? What about Auto Recessive disorders?
- Dominant - structural and regulatory proteins
- Recessive - enzymes
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What are the classifications of Mendelian Single-gene disorders:
- 1. Autosomal
- - Auto dominant
- - Auto recessive
- 2. Sex
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What are four autosomal recessive single-gene Mendelian disorders
Albinism, Phenylketonuria (PKU), Cystic Fibrosis, Sickle Cell
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What is the word that describes mating between related individuals? What type of disorder does this commonly reflect in?
Consanguinity; Autosomal Recessive Disorders
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Describe Sex (X-linked) disorders and provide two examples.
- X-linked disorders are from a mutated X chromosome. Boys will exhibit these because we only have one X chromosome and it is fucked up. Girls may not exhibit the problem because they have the additional X chromosome to compensate for it.
- Examples include: Hemophilia A and DI
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What is another name for Turner Syndrome, what is a common cause and who is affected?
Monosomy X, cause: advanced paternal age, girls are affected
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Are the manjority of Mendelian diorders familial? What percentage are from mutated genes?
Most Mendelian single-gene disorders are familial, 10 - 15% mutated
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What theory is Mendelian Single-Gene disorders based on?
Mendelian genetics is based on the principle that single genes are randomly and independently transmitted to offspring such that there is a 50:50 chance of receiving one or the other of a perent's alleles for a particular gene.
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