Biochemistry 4463G Lecture : Topic 1 and 2.docx

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Some diseases are almost completely genetically determined (ex. Both cf and huntington"s follow mendelian genetics typical inheritance patterns. Many traits often run in families but don"t have a single genetic cause (ex. diabetes, high blood pressure, mental health, alcoholism, personalities, appearance) Such traits tend to be influenced in by the environment (similar for families) Overlap of genetic & environmental creates complications in determining causes. Single gene disorders are inherited in predictable patterns. Cf = autosomal recessive more carriers horizontal inheritance. Huntington"s = autosomal dominant chance for child vertical inheritance. X-linked inheritance results in males expressing affected phenotype. Mitochondrial inheritance is strictly maternal inheritance (separate dna from other cells) Most genetic diseases present themselves early (embryonic/fetal) 50-70% of conceptions do not result in a healthy baby due to genetic causes. ~50% of spontaneous miscarriages are due to chromosomal aberrations. When presented in children, 0. 6% have chromosomal anomalies & 1% single gene defects.

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