Genotype Phenotype and Inheritance Flashcards

1
Q

What is genotype?

A

genes on a chromosome

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2
Q

What is phenotype?

A

physical characteristics: proteins in the cytoplasm

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3
Q

What is the difference between heterozygous, homozygous and hemizygous?

A

Homozygous –> 2 alleles of a gene are the same: homozygote.

Heterozygous –> 2 alleles of a gene are different: heterozygote.

Hemizygous –> only 1 allele of a gene on the X chromosome: males only

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4
Q

What is co-dominance?

A

neither allele A or B is dominant over the other e.g. AB blood type, two different alleles of a gene can be expressed, and each version makes a slightly different protein. Both alleles influence the genetic trait or determine the characteristics of the genetic condition.

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5
Q

Describe autosomal recessive inheritance

A

(cystic fibrosis): homozygotes affected, heterozygotes unaffected, M+F equally affected, can skip generations, both parents of affected child are heterozygous carriers

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6
Q

Describe autosomal dominant inheritance

A

(Huntington’s disease): don’t skip generations, heterozygotes affected, M+F equally affected, disease rarely found in homozygous state (embryonically lethal), affected have 50% risk offspring affected,

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7
Q

What is x-linked recessive?

A

(haemophilia A): hemizygous males, homozygous females, more common in males (F need both), affected males cannot give trait to son

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8
Q

What is x-linked dominant?

A

(Rett syndrome): hemizygous males, heterozygous females, affected males will not give to son but will to all daughters

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9
Q

Describe Y-linked inheritance

A

(infertility): few traits are Y-linked, Y-linked diseases are rare, only passed from father to son

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10
Q

What is polygenic/complex inheritance?

A

(CHD, asthma) More than 1 gene involved.

Linked - genes on same chromosome, do not show independent assortment at meiosis, recombination frequency dependent on distance between genes, close together = ‘tightly linked’, genes far apart on same chromosome behave as unlinked genes.

Not linked - genes on diff chromosomes

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11
Q

describe mitochondrial inheritance

A

inherit from mother

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