Inheritance Patterns in a Population (HSC SSCE Biology): Quizzes

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Genetics and Disease: Large-Scale Data
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What is the global prevalence of monogenic diseases at birth?

10 in every 1,000 births

On which chromosome is the HGD gene, mutated in alkaptonuria, located?

Chromosome 3

How is the abbreviation SNP pronounced?

Snips

What are SNPs?

Single base pair differences in DNA

On which chromosome is the BRCA1 gene located?

Chromosome 17

How many women carry BRCA1 or BRCA2 mutations?

1 in 600

Which database stores germline mutations causing inherited diseases?

HGMD

By age 80, what percentage of BRCA carriers develop breast cancer?

Approximately 70%

Which ethnic group showed the highest BRCA1 mutation prevalence in the study?

African women (10.2%)

What is the ovarian cancer risk by age 80 for BRCA1 carriers?

40-45%

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