Chromosomes and Human Inheritance. Chapter 12
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1 Chromosomes and Human Inheritance Chapter 12
2 Impacts, Issues: Strange Genes, Tortured Minds Exceptional creativity often accompanies neurobiological disorders such as schizophrenia, autism, chronic depression, and bipolar disorder Examples: Lincoln, Woolf, and Picasso
3 12.1 Human Chromosomes In humans, two sex chromosomes are the basis of sex human males have XY sex chromosomes, females have XX All other human chromosomes are autosomes chromosomes that are the same in males and females
4 Sex Determination in Humans Sex of a child is determined by the father Eggs have an X chromosome; sperm have X or Y
5 Sex Determination in Humans The SRY gene on the Y chromosome is the master gene for male sex determination Triggers formation of testes, which produce the male sex hormone (testosterone) Without testosterone, ovaries develop and produce female sex hormones (estrogens)
6 Sexual Development in Humans
7 diploid germ cells in female diploid germ cells in male meiosis, gamete formation in both female and male: eggs sperm X Y X X fertilization: X X X XX XX Y XY XY sex chromosome combinations possible in the new individual Fig. 12-2a, p. 186
8 Fig. 12-2bc, p. 186
9 At seven weeks, appearance of uncommitted duct system of embryo At seven weeks, appearance of structures that will give rise to external genitalia Y chromosome present Y chromosome absent Y chromosome present Y chromosome absent testes ovaries 10 weeks 10 weeks ovary penis vaginal opening uterus penis vagina testis birth approaching b c Fig. 12-2bc, p. 186
10 Animation: Human sex determination
11 Karyotyping Karyotype A micrograph of all metaphase chromosomes in a cell, arranged in pairs by size, shape, and length Detects abnormal chromosome numbers and some structural abnormalities Construction of a karyotype Colchicine stops dividing cells at metaphase Chromosomes are separated, stained, photographed, and digitally rearranged
12 Karyotyping
13 Fig. 12-3a, p. 187
14 Fig. 12-3b, p. 187
15 Animation: Karyotype preparation
16 12.1 Key Concepts Autosomes and Sex Chromosomes All animals have pairs of autosomes chromosomes that are identical in length, shape, and which genes they carry Sexually reproducing species also have a pair of sex chromosomes; the members of this pair differ between males and females
17 12.2 Autosomal Inheritance Patterns Many human traits can be traced to autosomal dominant or recessive alleles that are inherited in Mendelian patterns Some of those alleles cause genetic disorders
18 Autosomal Dominant Inheritance A dominant autosomal allele is expressed in homozygotes and heterozygotes Tends to appear in every generation With one homozygous recessive and one heterozygous parent, children have a 50% chance of inheriting and displaying the trait Examples: achondroplasia, Huntington s disease
19 Autosomal Recessive Inheritance Autosomal recessive alleles are expressed only in homozygotes; heterozygotes are carriers and do not have the trait A child of two carriers has a 25% chance of expressing the trait Example: galactosemia
20 Autosomal Inheritance
21 Fig. 12-4a, p. 188
22 Fig. 12-4b, p. 188
23 Animation: Autosomal dominant inheritance
24 Animation: Autosomal recessive inheritance
25 Galactosemia
26 Neurobiological Disorders Most neurobiological disorders do not follow simple patterns of Mendelian inheritance Depression, schizophrenia, bipolar disorders Multiple genes and environmental factors contribute to NBDs
27 12.3 Too Young to be Old Progeria Genetic disorder that results in accelerated aging Caused by spontaneous mutations in autosomes
28 Key Concepts Autosomal Inheritance Many genes on autosomes are expressed in Mendelian patterns of simple dominance Some dominant or recessive alleles result in genetic disorders
29 12.4 Examples of X-Linked Inheritance X chromosome alleles give rise to phenotypes that reflect Mendelian patterns of inheritance Mutated alleles on the X chromosome cause or contribute to over 300 genetic disorders
30 X-Linked Inheritance Patterns More males than females have X-linked recessive genetic disorders Males have only one X chromosome and can express a single recessive allele A female heterozygote has two X chromosomes and may not show symptoms Males transmit an X only to their daughters, not to their sons
31 X-Linked Recessive Inheritance Patterns
32 Animation: X-linked inheritance
33 Some X-Linked Recessive Disorders Hemophilia A Bleeding caused by lack of blood-clotting protein Red-green color blindness Inability to distinguish certain colors caused by altered photoreceptors in the eyes Duchenne muscular dystrophy Degeneration of muscles caused by lack of the structural protein dystrophin
34 Hemophilia A in Descendents of Queen Victoria of England
35 Red-Green Color Blindness
36 Fig. 12-9a, p. 191
37 Fig. 12-9b, p. 191
38 Fig. 12-9c, p. 191
39 Fig. 12-9d, p. 191
40 12.4 Key Concepts Sex-Linked Inheritance Some traits are affected by genes on the X chromosome Inheritance patterns of such traits differ in males and females
41 12.5 Heritable Changes in Chromosome Structure On rare occasions, a chromosome s structure changes; such changes are usually harmful or lethal, rarely neutral or beneficial A segment of a chromosome may be duplicated, deleted, inverted, or translocated
42 Duplication DNA sequences are repeated two or more times; may be caused by unequal crossovers in prophase I
43 normal chromosome one segment repeated p. 192
44 Deletion Loss of some portion of a chromosome; usually causes serious or lethal disorders Example: Cri-du-chat
45 segment C deleted p. 192
46 Deletion: Cri-du-chat
47 Fig a, p. 192
48 Fig b, p. 192
49 Inversion Part of the sequence of DNA becomes oriented in the reverse direction, with no molecular loss
50 segments G, H, I become inverted p. 192
51 Translocation Typically, two broken chromosomes exchange parts (reciprocal translocation)
52 chromosome nonhomologous chromosome reciprocal translocation p. 192
53 Does Chromosome Structure Evolve? Changes in chromosome structure can reduce fertility in heterozygotes; but accumulation of multiple changes in homozygotes may result in new species Certain duplications may allow one copy of a gene to mutate while the other carries out its original function
54 Differences Among Closely Related Organisms Humans have 23 pairs of chromosomes; chimpanzees, gorillas, and orangutans have 24 Two chromosomes fused end-to-end
55 human chimpanzee gorilla orangutan Fig , p. 193
56 Evolution of X and Y Chromosomes from Homologous Autosomes
57 Ancestral reptiles (autosome pair) Ancestral reptiles Y X Monotremes Y X Marsupials Y X Monkeys Y X Humans Y X areas that can cross over SRY areas that cannot cross over A Before 350 mya, sex was determined by temperature, not by chromosome differences. B SRY gene evolves 350 mya. Other mutations accumulate and the chromosomes of the pair diverge. C By mya, the two chromosomes have diverged so much that they no longer cross over in one region. The Y chromosome begins to degenerate. D Three more times, mya, the pair stops crossing over in another region. Each time, more changes accumulate, and the Y chromosome gets shorter. Today, t he pair crosses over only at a small region near the ends. Fig , p. 193
58 12.6 Heritable Changes in the Chromosome Number Occasionally, new individuals end up with the wrong chromosome number Consequences range from minor to lethal Aneuploidy Too many or too few copies of one chromosome Polyploidy Three or more copies of each chromosome
59 Nondisjunction Changes in chromosome number can be caused by nondisjunction, when a pair of chromosomes fails to separate properly during mitosis or meiosis Affects the chromosome number at fertilization Monosomy (n-1 gamete) Trisomy (n+1 gamete)
60 Nondisjunction
61 Autosomal Change and Down Syndrome Only trisomy 21 (Down syndrome) allows survival to adulthood Characteristics include physical appearance, mental impairment, and heart defects Incidence of nondisjunction increases with maternal age Can be detected through prenatal diagnosis
62 Trisomy 21
63 n + 1 n + 1 n 1 n 1 chromosome alignments at metaphase I NONDISJUNCTION AT ANAPHASE I alignments at metaphase II anaphase II CHROMOSOME NUMBER IN GAMETES Fig b, p. 194
64 n + 1 n + 1 n 1 n 1 chromosome alignments at metaphase I NONDISJUNCTION AT ANAPHASE I alignments at metaphase II anaphase II CHROMOSOME NUMBER IN GAMETES Stepped Art Fig b, p. 194
65 Down Syndrome and Maternal Age
66 Fig a, p. 195
67 Fig b, p. 195
68 Change in Sex Chromosome Number Changes in sex chromosome number may impair learning or motor skills, or be undetected Female sex chromosome abnormalities Turner syndrome (XO) XXX syndrome (three or more X chromosomes) Male sex chromosome abnormalities Klinefelter syndrome (XXY) XYY syndrome
69 Turner Syndrome XO (one unpaired X chromosome) Usually caused by nondisjunction in the father Results in females with undeveloped ovaries
70 Key Concepts: Changes in Chromosome Structure or Number On rare occasions, a chromosome may undergo a large-scale, permanent change in its structure, or the number of autosomes or sex chromosomes may change In humans, such changes usually result in a genetic disorder
71 12.7 Human Genetic Analysis Charting genetic connections with pedigrees reveals inheritance patterns for certain alleles Pedigree A standardized chart of genetic connections Used to determine the probability that future offspring will be affected by a genetic abnormality or disorder
72 Studying Inheritance in Humans Genetic studies can reveal inheritance patterns or clues to past events Example: A link between a Y chromosome and Genghis Khan?
73 Defining Genetic Disorders and Abnormalities Genetic abnormality A rare or uncommon version of a trait; not inherently life threatening Genetic disorder An inherited condition that causes mild to severe medical problems, characterized by a specific set of symptoms (a syndrome)
74 Some Human Genetic Disorders and Genetic Abnormalities
75 Stepped Art Table 12-1, p. 196
76 Recurring Genetic Disorders Mutations that cause genetic disorders are rare and put their bearers at risk Such mutations survive in populations for several reasons Reintroduction by new mutations Recessive alleles are masked in heterozygotes Heterozygotes may have an advantage in a specific environment
77 A Pedigree for Huntington s Disease A progressive degeneration of the nervous system caused by an autosomal dominant allele
78 Constructing a Pedigree for Polydactyly
79 Animation: Pedigree diagrams
80 12.8 Prospects in Human Genetics Genetic analysis can provide parents with information about their future children Genetic counseling Starts with parental genotypes, pedigrees, and genetic testing for known disorders Information is used to predict the probability of having a child with a genetic disorder
81 Prenatal Diagnosis Tests done on an embryo or fetus before birth to screen for sex or genetic problems Involves risks to mother and fetus Three types of prenatal diagnosis Amniocentesis Chorionic villus sampling (CVS) Fetoscopy
82 Amniocentesis
83 Animation: Amniocentesis
84 Fetoscopy
85 Preimplantation Diagnosis Used in in-vitro fertilization An undifferentiated cell is removed from the early embryo and examined before implantation
86 After Preimplantation Diagnosis When a severe problem is diagnosed, some parents choose an induced abortion In some cases, surgery, prescription drugs, hormone replacement therapy, or dietary controls can minimize or eliminate symptoms of a genetic disorder Example: PKU can be managed with dietary restrictions
87 Genetic Screening Genetic screening (widespread, routine testing for alleles associated with genetic disorders) Provides information on reproductive risks Identifies family members with a genetic disorder Used to screen newborns for certain disorders Used to estimate the prevalence of harmful alleles in a population
88 Key Concepts Human Genetic Analysis Various analytical and diagnostic procedures often reveal genetic disorders What an individual, and society at large, should do with the information raises ethical questions
89 Animation: Deletion
90 Animation: Duplication
91 Animation: Inversion
92 Animation: Morgan s reciprocal crosses
93 Animation: Translocation
94 Video: Strange genes, richly tortured minds
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