Autosomal Recessive Traits

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5 Terms

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Criteria

  • Males and females can be affected

  • The trait can skip generations

  • The gene can be transmitted unless it causes death before reproductive age

  • Most likely to occur in consanguineous families

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Cystic fibrosis causing gene

CFTR gene (cystic fibrosis transmembrane conductance regulator)

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CFTR gene function

Epithelial chloride channel.

Regulates chloride ion flow

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CF symptoms in newborns

  • Delayed growth

  • Failure to gain weight

  • No bowel movements in the first 24-48 hours

  • Salty tasting skin

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Symptoms

  • Bowel function

  • Lungs

  • Excessive salt in skin

  • Infertility in men later in life