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Understanding Mendelian Inheritance: Genes and Traits

Explore Gregor Mendel's crucial discoveries in genetics, from the laws of segregation and independent assortment to traits inheritance in humans. Learn about alleles, genotype, phenotype, and complex genetic interactions.

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Understanding Mendelian Inheritance: Genes and Traits

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  1. CHAPTER 14 MENDEL AND THE GENE IDEA OUTLINE

  2. I. GREGOR MENDEL’S DISCOVERIES • MENDEL BROUGHT AN EXPERIMENTAL AND QUANTITATIVE APPROACH TO GENETICS • GREGOR MENDEL FORMULATED A PARTICULATE THEORY OF INHERITANCE BASED ON EXPERIMENTS WITH GARDEN PEAS, CARRIED OUT IN THE 1860S. • HE SHOWED THAT PARENTS PASS ON TO THEIR OFFSPRING DISCRETE GENES THAT RETAIN THEIR IDENTITY THROUGH THE GENERATIONS.

  3. B. BY THE LAW OF SEGREGATION, THE TWO ALLELES FOR A CHARACTER ARE PACKAGED INTO SEPARATE GAMETES • MENDEL ARRIVED AT THIS LAW BY MAKING HYBRID OFFSPRING AND LETTING THEM SELF-POLLINATE. • THE HYBRIDS (F1) EXHIBITED THE DOMINANT TRAIT. • THE (F2) GENERATION, 75% OF OFFSPRING HAD THE DOMINANT TRAIT AND 25% HAD THE RECESSIVE TRAIT, FOR A 3:1 RATIO. • MENDEL’S EXPLANATION WAS THAT GENES HAVE ALTERNATIVE FORMS (NOW CALLED ALLELES) AND THAT EACH ORGANISM INHERITS ONE ALLELE FOR EACH GENE FROM EACH PARENT. • THESE SEPARATE (SEGREGATE) DURING GAMETE FORMATION, SO THAT A SPERM OR AN EGG CARRIES ONLY ONE ALLELE.

  4. 14.3 ALLELES, CONTRASTING VERSIONS OF A GENE

  5. AFTER FERTILIZATION, IF THE TWO ALLELES OF A GENE ARE DIFFERENT, ONE (THE DOMINANT ALLELE) IS EXPRESSED IN THE OFFSPRING AND THE OTHER (THE RECESSIVE ALLELE) IS MASKED. • HOMOZYGOUS INDIVIDUALS HAVE IDENTICAL ALLELES FOR A GIVEN CHARACTER AND ARE TRUE-BREEDING. • HETEROZYGOUS INDIVIDUALS HAVE TWO DIFFERENT ALLELES FOR A GIVEN CHARACTER.

  6. 14.4 MENDEL’S LAW OF SEGREGATION

  7. C. BY THE LAW OF INDEPENDENT ASSORTMENT, EACH PAIR OF ALLELES SEGREGATES INTO GAMETES INDEPENDENTLY • MENDEL PROPOSED THIS LAW BASED ON DIHYBRID CROSSES BETWEEN PLANTS CONTRASTING IN TWO OR MORE CHARACTERS (E.G., FLOWER COLOR AND SEED SHAPE). • ALLELES FOR EACH CHARACTER SEGREGATE INTO GAMETES INDEPENDENTLY OF ALLELES FOR OTHER CHARACTERS. • THE F2 GENERATION OF A DIHYBRID CROSS HAS FOUR POSSIBLE PHENOTYPES IN A 9:3:3:1 RATIO.

  8. 14.5 GENOTYPE VS. PHENOTYPE

  9. 14.6 A TESTCROSS

  10. 14.7 TESTING TWO HYPOTHESIS FOR SEGREGATION IN A DIHYBRID CROSS

  11. D. MENDELIAN INHERITANCE REFLECTS RULES OF PROBABILITY • THE RULE OF MULTIPLICATION STATES THAT THE PROBABILITY OF A COMPOUND EVENT IS EQUAL TO THE PRODUCT OF THE SEPARATE PROBABILITIES OF THE INDEPENDENT SINGLE EVENTS. • THE RULE OF ADDITION STATES THAT THE PROBABILITY OF AN EVENT THAT CAN OCCUR IN TWO OR MORE INDEPENDENT WAYS IS THE SUM OF THE SEPARATE PROBABILITIES.

  12. 14.8 SEGREGATION OF ALLELES AND FERTILIZATION AS CHANCE EVENTS

  13. II. EXTENDING MENDELIAN GENETICS • THE RELATIONSHIP BETWEEN GENOTYPE AND PHENOTYPE IS RARELY SIMPLE • IN INCOMPLETE DOMINANCE HETEROZYGOUS INDIVIDUAL HAS A PHENOTYPE INTERMEDIATE BETWEEN THOSE OF THE TWO TYPES OF HOMOZYGOTES. • IN CODOMINANCE, A HEROZYGOTE INDIVIDUAL EXHIBITS PHENOTYPES FOR BOTH ITS ALLELES. • MANY GENES EXIST IN MULTIPLE (MORE THAN TWO) ALLELES IN A POPULATION. • PLEIOTROPY IS THE ABILITY OF A SINGLE GENE TO AFFECT MULTIPLE PHENOTYPIC TRAITS • EPISTASIS, ONE GENE AFFECTS THE EXPRESSION OF ANOTHER GENE.

  14. 14.9 INCOMPLETE DOMINANCE IN SNAPDRAGON COLOR

  15. 14.10 MULTIPLE ALLELES FOR THE ABO BLOOD GROUPS

  16. 14.11 AN EXAMPLE OF EPISTASIS

  17. CERTAIN CHARACTERS ARE QUANTITATIVE; THEY VARY CONTINUOUSLY, INDICATING, POLYGENIC INHERITANCE, AN ADDITIVE EFFECT OF TWO OR MORE GENES ON A SINGLE, PHENOTYPIC CHARACTER. • QUANTITATIVE CHARACTERS ALSO INFLUENCED BY ENVIRONMENT ARE CALLED MULTIFACTORIAL

  18. III. MENDELIAN INHERITANCE IN HUMANS • PEDIGREE ANALYSIS REVEALS MENDELIAN PATTERNS IN HUMAN INHERITANCE • FAMILY PEDIGREES CAN BE USED TO DEDUCE THE POSSIBLE GENOTYPES OF INDIVIDUALS AND MAKE PREDICTIOM ABOUT FUTURE OFFSPRING. • ANY PREDICTIONS ARE USUALLY STATISTICAL ABILITIES RATHER THAN CERTAINTIES

  19. B. MANY HUMAN DISORDERS FOLLOW MENDELIAN PATTERNS OF INHERITANCE • CERTAIN GENETIC DISORDERS ARE INHERITED AS SIMPLE RECESSIVE TRAITS FROM PHENOTYPICALLY NORMAL, HETEROZYGOUS CARRIERS. • SOME HUMAN DISORDERS ARE DUE TO DOMINANT ALLELES. • MEDICAL RESEARCHERS ARE BEGINNING TO SORT OUT THE GENETIC AND ENVIROMENTAL COMPONENTS OF MULTIFACTORIAL DISORDERS, SUCH AS HEART DISEASE AND CANCER

  20. C. TECHNOLOGY IS PROVIDING NEW TOOLS FOR GENETIC TESTING AND COUNSELING • USING FAMILY HISTORIES, GENETIC COUNSELORS HELP COUPLES DETERMINE THE ODDS THAT THEIR CHILDREN WILL HAVE GENETIC DISORDERS. • FOR CERTAIN DISEASES, TESTS THAT IDENTY CARRIERS DEFINE THE ODDS MORE ACCURATELY. • ONCE A CHILD IS CONCEIVED AMNIOCENTESIS AND CHORIONIC VILLUS SAMPLING CAN HELP DETERMINE WHETHER A SUSPECTED GENETIC DISORDER IS PRESENT.

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