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Complex Patterns of Inheritance and Meiosis inheritance mistakes
More Complicated Situations…
1. Incomplete dominance
Multiple Alleles
IAIA = A; IAi = A IBIB=B; IBi = B
IAIB= ABii = O A, B – codominant
i - recessive
Other situations:• Pleiotropy – one gene affects several
phenotypes• Epistasis – one gene affects the phenotypic
expression of another gene• Polygenetic inheritance – additive effect of
two or more genes on a single phenotypic character
Human Disorders that follow Mendelian Patterns of Inhertitance
• Recessively inherited disorders: albinism, cystic fibrosis, Tay-Sachs disease, sickle-cell anemia
• Dominantly inherited disorders: Achondroplasia, Huntington’s disease
Cystic Fibrosis
is an autosomal recessive genetic disorder that affects mostly the lungs but also the pancreas, liver, and intestine. Difficulty breathing is the most serious symptom and results from frequent lung infections.
Tay-Sachs Disease
is a rare autosomal recessive genetic disorder. In its most common variant), it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four.
Achondroplasia
Huntington DiseaseLate Acting – middle age
Western Europeans
Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and behavioral[1] symptoms. The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called Huntingtin, which means any child of an affected person typically has a 50% chance of inheriting the disease.
Screening for inherited disorders
Pedigrees
Sex-linked traitsLocated on Sex chromosomes: X or Y
Females XX; Males XY
X-linked recessive
Hemophilia, color blindness
Human Disorders Due to Chromosomal Alterations
• Alterations of chromosome number and structure– Are associated with a number of serious human
disorders
Abnormal Chromosome Number• When nondisjunction occurs
– Pairs of homologous chromosomes do not separate normally during meiosis
– Gametes contain two copies or no copies of a particular chromosome
Figure 15.12a, b
Meiosis I
Nondisjunction
Meiosis II
Nondisjunction
Gametes
n + 1n + 1 n 1 n – 1 n + 1 n –1 n nNumber of chromosomes
Nondisjunction of homologouschromosomes in meiosis I
Nondisjunction of sisterchromatids in meiosis II
(a) (b)
Aneuploidy of Sex Chromosomes• Nondisjunction of sex chromosomes
– Produces a variety of aneuploid conditions
Down Syndrome
Down syndrome– Is usually the result of an extra chromosome 21, trisomy 21
Figure 15.15
• Klinefelter syndrome– Is the result of an extra chromosome in a male,
producing XXY individuals• Turner syndrome
– Is the result of monosomy X, producing an X0 karyotype