b) (3 points) People with AIS have either a partial phenotype (PAIS) or a comple
ID: 267829 • Letter: B
Question
b) (3 points) People with AIS have either a partial phenotype (PAIS) or a complete phenotype (CAIS). From a functional perspective (molecular level) what is the difference between the two? Briefly describe the change in function Morph that describes the caused by the mutation change in function Partial AIS Complete AIS c) (2 points) Some women can have a mutant version of the SRY gene (SRY-). Is it possible for SRY- or CAIS women to appear to be men in a sex test that uses a chromosome karyotype? Explain your reasoning.Explanation / Answer
Can have a genitalia that either a)look typical female b) have both male and female characteristics c)look typical male
They can have a male or female identity
External sex characteristics of a female, but no uterus and is infertile. They have internal male sex organ which is abnormally located in abdomen or pelvis
They have female gender identity
c) Yes, it is possible for females with SRY or CAIS mutation to appear as men in sex test.
SRY gene is present in the Y chromosome and is responsible for making a protein called sex-determining region Y protein. This protein is involved in the male sexual development and causes the fetus to develop testes and prevent the development of uterus and fallopian tube.
When a sperm cell undergoes crossover, normally the SRY gene stays on Y chromosome. If it gets transferred to X chromosome, the resulting Y chromosome will not have the SRY gene. The offspring that inherit this will have an XY karyotype but female phenotype. Hence karyotyping of this female will show a male genotype.
Similarly, women with CAIS, will be having XY chromosome but gender identity would be of female(see table), hence she would appear as men in sex test using chromosome karyotyping.
Change in function caused Morphology change Partial AIS Body is partially sensitive to androgen effects, even though sex chromosomes are XY as in males. Hence can have both male and female sex characteristics.Can have a genitalia that either a)look typical female b) have both male and female characteristics c)look typical male
They can have a male or female identity
Complete AIS Body cannot use androgen hormone at all, but sex chromosomes are XY. Hence have female sex characteristicsExternal sex characteristics of a female, but no uterus and is infertile. They have internal male sex organ which is abnormally located in abdomen or pelvis
They have female gender identity
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