Part of GEN-01 — Mendelian Genetics & Inheritance Patterns

Genetic Disorders and Conditions Referenced in Mendelian Genetics

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ConditionGene/AlleleInheritance TypeKey Feature
Sickle Cell AnemiaHbS allele of beta-globin genePleiotropy; Autosomal recessive (for disease expression)One allele causes: abnormal haemoglobin → sickle RBCs → anaemia → multi-organ damage; heterozygotes (HbA HbS) show co-dominance with malaria resistance
ABO Blood GroupsIAI^A, IBI^B, i alleles of ABO gene (chromosome 9)Multiple allelism + co-dominance (IAI^A IBI^B) + dominance (IAI^A or IBI^B over i)3 alleles, 6 genotypes, 4 phenotypes; controls RBC surface antigens; critical for blood transfusion compatibility
Thalassemia (context)Alpha or beta globin genesIncomplete dominance in heterozygotes (thalassemia minor)Single gene defect in haemoglobin chain; heterozygotes show intermediate disease severity
Snapdragon Flower ColourR locusIncomplete dominanceRR = red, Rr = pink (intermediate), rr = white; neither allele fully dominant
Sweet Pea Flower ColourC and P gene lociComplementary gene interaction (9:7)Both C and P dominant alleles needed for colour; absence of either gives white
Labrador Coat ColourB and E gene lociRecessive epistasis (9:3:4)ee genotype epistatic to B/b gene; ee = yellow regardless of B allele
Squash Fruit ColourMultiple gene lociDominant epistasis (12:3:1)Single dominant allele at one locus masks expression of other locus
Human Skin ColourMultiple gene loci (MC1R, OCA2, SLC24A5, and others)Polygenic inheritanceMany genes with additive effects; continuous variation; bell-curve distribution
AlbinismTYR gene (tyrosinase)Autosomal recessiveAbsence of melanin pigment; homozygous recessive for tyrosinase-null allele
Huntington's Disease (context)HTT geneAutosomal dominant (exception showing dominant disorder)Single dominant allele sufficient for disease; not Mendelian recessive pattern

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