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GED- Genes > Human Genetics > Flashcards

Human Genetics Flashcards

1
Q

What percentage of humans are affected by Mendelian diseases at birth?

A

1%

Approximately 5% are affected at some point in their lives.

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2
Q

What is the percentage of pediatric hospital referrals that are for Mendelian diseases?

A

40%

This highlights the significance of Mendelian diseases in pediatric healthcare.

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3
Q

Why is identifying disease genes important?

A
  • Genetic Testing for Disease Prevention
  • New Treatments
  • Insight into Common Diseases
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4
Q

What is an example of a genetic test for disease prevention?

A

Newborn blood spot tests

Tests for diseases like sickle cell, hypothyroidism, and cystic fibrosis.

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5
Q

What are two examples of drugs developed for Cystic Fibrosis?

A
  • Orkambi
  • Kaftrio
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6
Q

What does pedigree analysis investigate?

A

The occurrence of the disease in families to determine the type of disease mutation.

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7
Q

What is linkage analysis used for?

A

To look for evidence of genetic linkage between the disease gene and genetic markers.

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8
Q

What are the modes of Mendelian inheritance?

A
  • Autosomal recessive
  • Autosomal dominant
  • X-linked recessive
  • X-linked dominant
  • Y-linked inheritance
  • Maternal inheritance
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9
Q

What does incomplete penetrance mean?

A

Not all individuals with a mutation express the phenotype.

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10
Q

What is genetic heterogeneity?

A

Mutations in different genes can give the same disease.

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11
Q

What are short tandem repeats (STRs)?

A

Tandem repeats of a short sequence, usually 2-4 nucleotides, often in non-coding sequences.

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12
Q

What is the most common type of polymorphism in the human genome?

A

Single nucleotide polymorphisms (SNPs)

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13
Q

How can DNA profiling help law enforcement?

A
  • Unique DNA profiles
  • Crime scene evidence
  • Database comparison
  • Family links
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14
Q

What is positional cloning?

A

The process of selecting candidate genes in the region of a chromosome and looking for disease-associated mutations.

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15
Q

What is Next Generation Sequencing (NGS) used for?

A

To identify rare variants shared by only affected individuals.

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16
Q

What was the goal of the 100,000 Genomes project?

A

To sequence 100,000 genomes to advance genetic research.

17
Q

What can be inferred from a pedigree diagram?

A

The mode of inheritance of a mutation.

18
Q

Fill in the blank: A _______ is a single nucleotide difference between individuals.

A

SNP

19
Q

True or False: The chance of a random DNA match is less than 1 in a billion.

A

True

20
Q

What is the typical distance between SNPs when using a GeneChip for genotyping?

A

One SNP per 3,000-6,000 bp

21
Q

What does a pedigree diagram indicate if a trait skips generations?

A

It is likely caused by an autosomal recessive allele.

22
Q

What is the inheritance pattern for X-linked dominant mutations?

A

Affected males pass the condition to all their daughters but to none of their sons.

23
Q

What is a characteristic of autosomal dominant inheritance?

A

Phenotype appears in every generation and affects males and females equally.

24
Q

What are the four types of Mendelian inheritance?

A

Autosomal recessive, Autosomal dominant, X-linked recessive, X-linked dominant

25
Q

What characterizes Autosomal dominant inheritance?

A

Phenotype appears in every generation and affects males and females equally

Sometimes the homozygous mutant is lethal.

26
Q

What is a key feature of Autosomal recessive inheritance?

A

Phenotype can skip generations; both parents must be carriers to transmit the trait.

27
Q

What is the pattern of inheritance for X-linked dominant conditions?

A

Affected males pass on the condition to all their daughters but to none of their sons.

28
Q

How do affected heterozygous females transmit X-linked dominant conditions?

A

They pass the condition to half their sons and daughters.

29
Q

What is the frequency of X-linked dominant mutations, such as Rett syndrome?

A

Occurs in 1/10,000 female births.

30
Q

In X-linked recessive inheritance, how are sons and daughters affected when the mother is a carrier?

A

Half of sons predicted to be affected and half of daughters predicted to be carriers.

31
Q

What is the outcome when a hemizygous affected male transmits an X-linked recessive condition?

A

None of his children are affected but all his daughters are carriers.

32
Q

If an affected female has children in X-linked recessive inheritance, what will be the outcome?

A

All sons will be affected and all daughters will be carriers.

33
Q

Fill in the blank: Autosomal dominant inheritance affects males and females _______.

A

equally

34
Q

True or False: Autosomal recessive traits can appear in every generation.

A

False

35
Q

What is a characteristic of Autosomal recessive traits regarding parents?

A

Both parents must be carriers to transmit the trait.

GED- Genes (8 decks)

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