Essential Questions. Basic Patterns of Human Inheritance. Copyright McGraw-Hill Education

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1 Essential Questions How can genetic patterns be analyzed to determine dominant or recessive inheritance patterns? What are examples of dominant and recessive disorders? How can human pedigrees be constructed from genetic information? Basic Patterns of Human Inheritance

2 Vocabulary Review genes New carrier pedigree Basic Patterns of Human Inheritance

3 Recessive Genetic Disorders A recessive trait is expressed when the individual is homozygous recessive for the trait. Those with at least one dominant allele will not express the recessive disorder. An individuals who is heterozygous for a recessive disorder is called a carrier. Basic Patterns of Human Inheritance

4 Recessive Genetic Disorders Cystic fibrosis A disorder that affects the mucous-producing glands, digestive enzymes, and sweat glands. Chloride ions are not properly transported out of cells of a person with cystic fibrosis. Cystic fibrosis causes mucus excretion that clogs ducts in the pancreas, interrupts digestion, and blocks respiratory pathways in the lungs. Basic Patterns of Human Inheritance

5 Recessive Genetic Disorders Albinism Albinism is caused by altered genes, resulting in the absence of the skin pigment melanin in hair and eyes. Individuals with albinism have very pale skin, white hair, and pink irises. Basic Patterns of Human Inheritance

6 Recessive Genetic Disorders Tay-Sachs disease Caused by the absence of the enzymes responsible for breaking down fatty acids called gangliosides Gangliosides accumulate in the brain, inflating brain nerve cells and causing mental deterioration. Basic Patterns of Human Inheritance

7 Dominant Genetic Disorders Huntington s disease Affects the nervous system, causing gradual loss of brain function Occurs in 1 out of every 10,000 people in the US Achondroplasia Causes small body size and limbs that are comparatively short Caused by an abnormal gene that affects bone growth Basic Patterns of Human Inheritance

8 Pedigrees A pedigree is a diagram that traces the inheritance of a particular trait through several generations. Basic Patterns of Human Inheritance

9 Analyzing Pedigrees Pedigrees can be used to examine both recessive and dominant genetic disorders. Recessive disorder Information about an individual s genotype can be inferred from the phenotype of his/her parents and offspring. Dominant disorder Basic Patterns of Human Inheritance

10 Analyzing Pedigrees Inferring Genotypes Knowing physical traits can determine what genes an individual is most likely to have. Predicting Disorders Record keeping helps scientists use pedigree analysis to study inheritance patterns, determine phenotypes, and ascertain genotypes. Basic Patterns of Human Inheritance

11 Review Essential Questions How can genetic patterns be analyzed to determine dominant or recessive inheritance patterns? What are examples of dominant and recessive disorders? How can human pedigrees be constructed from genetic information? Vocabulary carrier pedigree Basic Patterns of Human Inheritance

12 Essential Questions What are the differences between various complex inheritance patterns? How can sex-linked inheritance patterns be analyzed? How can the environment influence the phenotype of an organism? Complex Patterns of Inheritance

13 Vocabulary Review gamete New incomplete dominance codominance multiple alleles epistasis sex chromosome autosome sex-linked trait polygenic trait Complex Patterns of Inheritance

14 Incomplete Dominance In some organisms, heterozygous individuals will display the dominant phenotype. With incomplete dominance, the heterozygous phenotype is an intermediate phenotype between the two homozygous phenotypes. Complex Patterns of Inheritance

15 Codominance In codominance, both the dominant and recessive alleles are expressed in heterozygous individuals. Complex Patterns of Inheritance

16 Codominance Sickle-cell disease Changes in hemoglobin cause red blood cells to become sickle shaped. People who are heterozygous for the trait have both normal and sickleshaped cells. Sickle-cell disease and malaria Those who are heterozygous for the sickle cell trait also have a higher resistance to malaria. The death rate due to malaria is lower where sickle-cell trait is higher, meaning more people live to pass it on to their offspring. Complex Patterns of Inheritance

17 Multiple Alleles Blood groups in humans Some forms of inheritance are determined by more than two alleles, referred to as multiple alleles. The ABO blood group has three forms of alleles, sometimes called AB markers. Complex Patterns of Inheritance

18 Multiple Alleles Coat color of rabbits Multiple alleles can demonstrate a hierarchy of dominance. In rabbits, four alleles code for coat color: C, c ch, c h, and c. The hierarchy of dominance is C > c ch > c h >c. The presence of multiple alleles increases the possible number of genotypes and phenotypes. Complex Patterns of Inheritance

19 Epistasis Epistasis is an interaction where of one allele hiding the effects of another allele. Seen in the coat color of Labrador retrievers Dominant allele E determines whether the coat will have dark pigment. Allele B determines how dark the coat will be. When a dog has recessive ee alleles, the coat will be yellow, because the e allele masks the effects of the B allele. Complex Patterns of Inheritance

20 Sex Determination One pair of chromosomes, sex chromosomes, determine an individual s gender. XX: female XY: male The other 22 pairs of chromosomes are called autosomes. Complex Patterns of Inheritance

21 Dosage Compensation The X chromosome carries a variety of genes that are necessary for the development of both females and males. The Y chromosome mainly has genes that relate to the development of male characteristics. In female, one X chromosome is inactivated in each cell. Called dosage compensation or x-inactivation Which X stops working in each cell is random. Complex Patterns of Inheritance

22 Dosage Compensation Barr bodies The inactivated X chromosome can be observed in cells. Darkly stained, inactivated X chromosomes are called Barr bodies. Complex Patterns of Inheritance

23 Sex-Linked Traits Traits controlled by genes located on the X chromosome are sex-linked traits. Because males have only one copy of the X chromosome, they are more affected by recessive X-linked traits. Complex Patterns of Inheritance

24 Sex-Linked Traits Red-green color blindness Recessive, X-linked trait Mothers are carriers. Complex Patterns of Inheritance

25 Sex-Linked Traits Hemophilia Recessive, X-linked trait that causes delayed clotting of blood Complex Patterns of Inheritance

26 Polygenic Traits Polygenic traits arise from the interaction of multiple pairs of genes. Include such traits as skin color, height, and eye color Complex Patterns of Inheritance

27 Environmental Influences Sunlight and water Without enough sunlight, most plants will not produce flowers. Insufficient water causes plants to drop their leaves. Temperature Most organisms experience phenotypic changes with extreme heat. Complex Patterns of Inheritance

28 Twin Studies Help scientists separate genetic contributions from environmental contributions Traits that appear frequently in identical twins are at least partially controlled by heredity. Traits expressed differently in identical twins are strongly influenced by environment. Complex Patterns of Inheritance

29 Review Essential Questions What are the differences between various complex inheritance patterns? How can sex-linked inheritance patterns be analyzed? How can the environment influence the phenotype of an organism? Vocabulary incomplete dominance codominance multiple alleles epistasis sex chromosome autosome sex-linked trait polygenic trait Complex Patterns of Inheritance

30 Essential Questions How are karyotypes used to study genetic disorders? What is the role of telomeres? How is nondisjunction related to Down syndrome and other abnormal chromosome numbers? What are the benefits and risks of diagnostic fetal testing? Chromosomes and Human Heredity

31 Vocabulary Review mitosis New karyotype telomere nondisjunction Chromosomes and Human Heredity

32 Karyotype Studies Scientists study not only genes but entire chromosomes. Images of chromosomes stained during metaphase allow scientists to study sister chromatids and homologous chromosomes. Karyotype micrograph in which the pairs of homologous chromosomes are arranged in decreasing size. Chromosomes and Human Heredity

33 Telomeres Telomeres are protective caps on the end of chromosomes. Telomeres consist of DNA and proteins. They serve as a protective function for the structure of the chromosome. Chromosomes and Human Heredity

34 Nondisjunction Cell division where sister chromatids fail to separate properly is called nondisjunction. Chromosomes and Human Heredity

35 Nondisjunction Down syndrome Result of an extra chromosome 21 Characteristics include distinctive facial features, short stature, heart defects, and mental disability. Chromosomes and Human Heredity

36 Fetal testing Fetal tests can provide information on potential genetic disorders and chromosomal status of developing babies. Chromosomes and Human Heredity

37 Review Essential Questions How are karyotypes used to study genetic disorders? What is the role of telomeres? How is nondisjunction related to Down syndrome and other abnormal chromosome numbers? What are the benefits and risks of diagnostic fetal testing? Vocabulary karyotype telomere nondisjunction Chromosomes and Human Heredity

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