《遗传学》课程教学资源：第二章 孟得尔式遗传分析（名词概念、孟得尔定律的普遍性、孟得尔定律的补充）

第二章孟得尔式遗传分析 有关名词概念 I alleles 2 homozygote 3 heterozygote 4 true breeding 5 genotype 6 phenotype 7 testcross 8 backcross 9 phenocopy 10 expressivity 1l penetrance 12 reaction norm

第二章 孟得尔式遗传分析 一有关名词概念 1 alleles 2 homozygote 3 heterozygote 4 true breeding 5 genotype 6 phenotype 7 testcross 8 backcross 9 phenocopy 10 expressivty 11 penetrance 12 reaction norm

孟得尔定律的普遍性 1动、植物遗传 随

二 孟得尔定律的普遍性 1 动、植物遗传

RR X rr RR X rr Rr RrⅩrr IRR 2 Rr rr 1 Rr Irr

RR X rr RR X rr Rr Rr X rr 1RR 2 Rr 1 rr 1 Rr 1 rr

Gene Biochemical Change of Unbranched Starch Molecules Pea shape Dominant Active allele R enzyme Conversion ③○ Unbranched starch Branched starch Round pea Recessive Inactive allele r enzyme conversion Unbranched starch Unbranched starch Wrinkled pea Figure Round and wrinkled peas: How one gene determines an enzyme that affects pea shape. The R allele of the pea shape gene directs the synthesis of an enzyme that converts unbranched starch to branched starch, indirectly leading to round pea shape. The r allele of this gene determines an inactive form of the enzyme, leading to a buildup of linear starch that ultimately causes seed wrinkling

2人类遗传 遗传方式:显性遗传隐性遗传 基因所在染色体:常染色体遗传性染色体遗 传 控制性状的基因数目:单基因遗传多基因遗 传 pedigree analysis (1)正常性状 眼睛颜色:棕色十蓝色 用手习惯:右癖+左癖 有耳垂+无耳垂

2 人类遗传 遗传方式 ： 显性遗传 隐性遗传 基因所在染色体：常染色体遗传 性染色体遗 传 控制性状的基因数目：单基因遗传 多基因遗 传 pedigree analysis (1)正常性状 眼睛颜色： 棕色＋ 蓝色－ 用手习惯： 右癖＋ 左癖－ 有耳垂＋ 无耳垂－

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Individual genotypes AA AS Ss A Probes for alternative β-g/obin a∥ eles Normal Carrier Diseased a direct look at the B-globin genotype. Two probes, one specific for the normal A allele, the other specific for the abnormal sickle-cell S allele, are necessary to determine the genotype of a sample of DNA amplified by the polymerase chain reaction. The presence of a particular allele is indicated by reaction of the corresponding probe with the DNA sample to produce a darkened signal visible on X-ray film. In this diagram of a B-globin genotype analysis, the green circles show that a probe reacted with a specific allele the white circles indicate no reaction. Note that only the carrier with both A and S alleles has two green circles

(2遗传病 单基因常染色体疾病可分常染色体显性遗传和常染色体 隐性遗传 a常染色体显性遗传特点: 1双亲之一为患者,而且常为杂合子 2子女中有1/2可能性发病,男女发病机会相等。 3连续几代都可能有患者 4正常人与正常人婚配,其子女一般不会有患者。 这类疾病有数百种,如多脂症、多发性结肠息肉、先天 性白内障等

(2)遗传病 单基因常染色体疾病可分常染色体显性遗传和常染色体 隐性遗传 a 常染色体显性遗传特点： 1 双亲之一为患者，而且常为杂合子。 2 子女中有1/2可能性发病，男女发病机会相等。 3 连续几代都可能有患者。 4 正常人与正常人婚配，其子女一般不会有患者。 这类疾病有数百种，如多脂症、多发性结肠息肉、先天 性白内障等