Inheritance Patterns in a Population (HSC SSCE Biology): Flashcards
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Monogenic disease definition
Monogenic disease definition
Condition caused by mutation in a single gene
Monogenic disease prevalence at birth (per 1,000)
Monogenic disease prevalence at birth (per 1,000)
10 in every 1,000 births
SNPs full name
SNPs full name
Single nucleotide polymorphisms
Alkaptonuria alternate name
Alkaptonuria alternate name
Black urine disease
BRCA1 gene location (chromosome number)
BRCA1 gene location (chromosome number)
Chromosome 17
BRCA2 gene location (chromosome number)
BRCA2 gene location (chromosome number)
Chromosome 13
Normal function of BRCA1 and BRCA2 genes
Normal function of BRCA1 and BRCA2 genes
Repair damaged DNA and regulate cell division
BRCA mutation prevalence (1 in how many women)
BRCA mutation prevalence (1 in how many women)
1 in 600 women
HGMD stores which type of mutations
HGMD stores which type of mutations
Germline mutations (inherited)
COSMIC stores which type of mutations
COSMIC stores which type of mutations
Somatic mutations (not inherited, cause cancer)