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Genetics Flashcards Overview
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1
Question
What is a single gene disorder?
Page 1
Answer
A change in the DNA sequence of one specific gene that results in a faulty protein.
2
Question
How can single gene disorders be detected using DNA sequencing?
Page 1
Answer
By reading the exact order of nucleotides in the DNA to identify mutations.
3
Question
What is restriction fragment length polymorphism (RFLP) used for in genetic testing?
Page 1
Answer
Detecting single gene disorders by using restriction enzyme digestion.
4
Question
How does PCR help in detecting single gene disorders?
Page 1
Answer
By amplifying specific DNA segments to study mutations.
5
Question
What is cystic fibrosis?
Page 1
Answer
A single gene disorder that affects respiratory and other systems due to a mutation in the CFTR gene.
6
Question
What causes sickle cell anemia?
Page 1
Answer
A mutation in the HBB gene that produces abnormal hemoglobin, causing red blood cells to form a sickle shape.
7
Question
What is Huntington's disease?
Page 1
Answer
A single gene disorder caused by a mutation leading to degeneration of nerve cells in the brain.
8
Question
What are multifactorial disorders?
Page 2
Answer
Disorders caused by a combination of multiple genes and environmental factors.
9
Question
How are multifactorial disorders detected?
Page 2
Answer
Through assessment of multiple gene panels, family history, and monitoring.
10
Question
What is Type 2 diabetes?
Page 2
Answer
A multifactorial disorder involving insulin resistance and high blood sugar.
11
Question
What is Alzheimer's disease?
Page 2
Answer
A multifactorial disorder that causes memory loss, confusion, and cognitive decline.
12
Question
What are chromosomal disorders?
Page 2
Answer
Disorders caused by structural or numerical abnormalities in chromosomes.
13
Question
How are chromosomal disorders detected?
Page 2
Answer
Using karyotyping, FISH, or microarray hybridization.
14
Question
What is Down syndrome?
Page 2
Answer
A chromosomal disorder caused by an extra copy of chromosome 21 (trisomy 21).
15
Question
What is Turner syndrome?
Page 2
Answer
A chromosomal disorder where females have only one X chromosome (45,X).
16
Question
What causes X-linked disorders?
Page 3
Answer
Mutations in genes on the X chromosome, affecting males more severely.
17
Question
Give an example of an X-linked disorder.
Page 3
Answer
Hemophilia, where blood doesn't clot properly due to missing clotting factors.
18
Question
What are examples of autosomal dominant inheritance?
Page 3
Answer
Huntington's disease and Marfan syndrome.
19
Question
What is Leber's hereditary optic neuropathy?
Page 3
Answer
An X-linked disorder causing sudden vision loss due to optic nerve damage.
20
Question
What is mitochondrial inheritance?
Page 3
Answer
Inheritance of disorders from mutations in mitochondrial DNA, passed only from the mother.
21
Question
Give an example of a mitochondrial disorder.
Page 3
Answer
Leber's hereditary optic neuropathy (LHON).
22
Question
What is the inheritance pattern of Duchenne muscular dystrophy?
Page 3
Answer
X-linked recessive.
23
Question
What is the chance of a carrier mother having an affected son?
Page 3
Answer
50%.
24
Question
What is Tay-Sachs disease?
Page 3
Answer
An autosomal recessive disorder causing progressive nervous system damage in infants.
25
Question
What symptoms are associated with Turner syndrome?
Page 4
Answer
Short stature, lack of ovarian development, and heart defects.
26
Question
What is the inheritance pattern of Marfan syndrome?
Page 4
Answer
Autosomal dominant.
27
Question
What are symptoms of Klinefelter syndrome?
Page 4
Answer
Tall stature, infertility, and breast development in males (XXY).
28
Question
What is the inheritance pattern of cystic fibrosis?
Page 4
Answer
Autosomal recessive.
29
Question
What symptoms does phenylketonuria (PKU) cause?
Page 4
Answer
Intellectual disability, seizures, and behavioral problems if untreated.
30
Question
When is noninvasive prenatal testing (NIPT) performed?
Page 5
Answer
From 10 weeks of pregnancy.