第5章性别决定和伴性遗传.ppt

第5章性别决定和伴性遗传 n－1 n－1 n－1 n－1 n＋1 n ＋ 1 n＋1 n ＋ 1 Chromosome nondisjunction(染色体不分离) at meiosis 第5章性别决定和伴性遗传 n－1 n＋1 第5章性别决定和伴性遗传 基因突变与人类性别畸形 男性假阴阳人(Testicular feminingntiun) 核型2A XY X染色体上Tfm座位 XtfmY 第5章性别决定和伴性遗传 第5章性别决定和伴性遗传 二、Lyon Hyperthesis In 1961 Mary Lyon -------- British geneticist -- studied color coat in mice -- knew that coat color was X-linked -- crossed pure-breeding coat color strains(纯系). -- resulting heterozygous mice had coat color distinct from parental mice （杂合体具有不同于双亲的毛皮颜色） -- males and females were different（雌雄不同） -- females - coat was composed of patches of both parental colors in random patterns（雌性毛皮具有双亲的颜色，且呈随机的斑纹） -- males - never showed patches. 第5章性别决定和伴性遗传 Lyon concluded : Male mice ------ hemizygous（半合子） have to be uniform color because they only have one allele Female mice ------- both alleles had to be active, but apparently not in the same cell. Lyon Hypothesis: Female cells inactivate one of their X-chromosomes during early embryological development and that the Barr body represents the inactivated X-hromosome ?We now know that the Barr body is an inactive highly condensed X chromosome. 第5章性别决定和伴性遗传 Lyon假说的要点 雌性哺乳动物细胞内只有一条X有活性，另一条失活并固缩，后者在间期细胞表现为性染色质体； 失活发生在胚胎的早期； 失活是随机的，即失活的X染色体既可来自父亲可来自母亲，但一个细胞某条X－旦失活，由该细胞繁衍而来的子细胞都具有同一条失活的X染色体。后知，X 失活发生在囊胚期，约在妊娠16天左右。 杂合体雌性在伴性基因的作用上是嵌合体(mosaic)。 第5章性别决定和伴性遗传 玳瑁猫 第5章性别决定和伴性遗传 Calico cats 黑黄斑 第5章性别决定和伴性遗传 Calico Cats (玳瑁猫normally all females) B = allele for black fur, on X chromosome O = allele for orange fur, on X chromosome XBXB All black fur, female cat XOXO All orange fur, female cat XBXO Black and orange, female cat (Calico) XBY Black, male cat XOY Orange, male cat XBXOY Black and orange, male (Klinefelter, Calico) 第5章性别决定和伴性遗传 G-6-PD 葡萄糖-6-磷酸脱氢酶 有A，B两种类型，基因在X染色体上。 女性有XAXA，XBXB，XAXB 男性有XAY，XBY 提取G-6-PD，电泳： A － － － B － － － F