ABGC Board Exam (Genetic Counseling) Questions and Answers 100% Solved

ABGC Board Exam (Genetic Counseling) Questions and Answers 100% Solved Osteogenesis imperfecta ️️Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD, normal sclera, mild/mod bone deformity, short stature, fractures Alzheimer disease ️️Usually complex inheritance, FDR risk 38% over lifetime APOe4 allele confers risk, modifier of monogenic AD genes (causes earlier onset). APOe2 allele is protective for AD. AD genes: APP, PSEN1 (50% of AD cases), PSEN2