of the given answers What are the possible sex chromosome combinations for children with the pseudohermaphroditic condition congenital adrenal hyperplasia (CAH)? Check All That Apply XXXX XYXY XY lacking the SRY geneXY lacking the SRY gene XX with a copy of the SRY gene
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of the given answers What are the possible sex chromosome combinations for children with the pseudohermaphroditic condition congenital adrenal hyperplasia (CAH)?
-
XXXX
-
XYXY
-
XY lacking the SRY geneXY lacking the SRY gene
-
XX with a copy of the SRY gene
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- Mutations Can Uncouple chromosomal Sex from Phenotypic Sex Discuss whether the following individuals (1) have male or female gonads, (2) are phenotypically male or female (discuss Wolffian/Mllerian ducts and external genitalia), and (3) are sterile or fertile. a. XY, homozygous for a recessive mutation in the testosterone biosynthetic pathway, producing no testosterone b. XX, heterozygous for a dominant mutation in the testosterone biosynthetic pathway, which causes continuous production of testosterone c. XY, heterozygous for a recessive mutation in the MIH gene d. XY, homozygous fora recessive mutation in the SRY gene that abolishes functionAssume that the ratio of females to males is 1:1. A couple already has two daughters and no sons. If they plan to have a total of six children, what is the probability that they will have four more girls? (a) (b) (c) 116 (d) 132 (e) 164Human females have two X chromosomes XX; males have one X and one Y chromosome XY. a. With respect to X-linked alleles, how many different types of gametes can a male produce? b. A female homozygous for an X-linked allele can produce how many types of gametes with respect to that allele? c. A female heterozygous for an X-linked allele can produce how many types of gametes with respect to that allele?
- Human females have two X chromosomes (XX); males have one X and one Y chromosome (XY). a. With respect to X-linked alleles, how many different types of gametes can a male produce? b. If a female is homozygous for an X-linked allele, how many types of gametes can she produce with respect to that allele? c. If a female is heterozygous for an X-linked allele, how many types of gametes can she produce with respect to that allele?Figure 43.15 Which of the following statements about hormone regulation of the female reproductive cycle is false? LH and FSH are produced in the pituitary, and estradiol and progesterone are produced in the ovaries. Estradiol and progesterone secreted from the corpus luteum cause the endometrium to thicken. Both progesterone and estradiol are produced by the follicles. Secretion of GnRH by the hypothalamus is inhibited by low levels of estradiol but stimulated by high levels of estradiol.A man is homozygous dominant for ten different genes that assort independently. How many genotypically different types of sperm could he produce? A woman is homozygous recessive for eight of these genes and is heterozygous for the other two. How many genotypically different types of eggs could she produce? What can you conclude about the relationship between the number of different gametes possible and the number of heterozygous and homozygous gene pairs that are present?
- As outlined in this chapter, sex can be defined at several levels: chromosomal, gonadal, and phenotypic. To this we can add psychological sex, the sex one believes themselves to be. Determining someones sex is a complex issue that is often difficult to resolve, as the case of Bruce Reimer (see Section 7.1) illustrates. In spite of the complexity surrounding this issue, the International Olympic Committee (IOC) and the International Association of Athletics Federations (IAFF) still use sex testing on female athletes to determine whether they can compete in athletic events as females. This has led to serious personal, social, and legal issues, and the practice has been widely condemned and widely defended. Lets examine two such cases here. An Indian athlete, Santhi Soundarajan, finished second in the 800-meter run at the Asian Games in Doha, Qatar, in 2006. After the race, she was asked to take a sex test. According to press reports, the tests showed that she appeared to have abnormal chromosomes. An official stated that she had more Y chromosomes than allowed. As a result, she was stripped of her medal, banned from further competition by the Indian Olympic Association, and shunned by her local community. Before the race in Doha, Santhi had competed in 8 international competitions and won 12 medals. Sometime after this incident, she attempted suicide. She now runs a training school for athletes in Tamil Nadu, India. Although the number and types of tests done on Santhi have not been revealed, such tests usually involve examination of the external genitals, a chromosome analysis, and measurement of hormone levels. Suppose you were on the committee deciding whether Santhi could compete as a female. Consider each of the following hypothetical tests one at a time and base your conclusions only on the results of that test. The results of a physical examination show she has female genitals. On this basis, would you allow her to keep her medal and compete as a female in future races? Suppose the results of a chromosomal analysis shows that she has an XY chromosome set and is chromosomally male. Would you allow her to keep her medal and compete as a female? Lastly, suppose a test for hormone levels shows that she has levels of the male sex hormone testosterone that are higher than average for females but at least 10 times lower than the average for males. Would you allow her to keep her medal and compete in future races as a female? Now, put the results of all three tests together, and consider them as a whole. What are your conclusions? Now, lets consider the case of a South African runner, Caster Semenya, who won the 800-meter run at the World Championships held in Berlin, Germany, in 2009. After the race, she was asked to undergo sex testing. The IAAF stated that the tests were requested to ascertain whether she had a rare medical condition that gave her an unfair physical advantage. The nature of the tests and their results were not released, but press reports indicate that she did not have ovaries or a uterus, and had testosterone levels intermediate between the averages for males and females. In the end, the IAAF agreed to keep the results of her tests confidential, and Caster was allowed to keep her medal and return to international competition in 2010. In both cases, what the IAAF considers the threshold for determining who can compete as a female has not been stated. Would you recommend that testing of female athletes be continued to ensure that males do not compete as females? Or should all such testing be banned?Jan is concerned about using ART. She wants to be the genetic mother and have Darryl be the genetic father of any children they have. What methods of ART would you recommend to this couple? Jan, a 32-year-old woman, and her husband, Darryl, have been married for 7 years. They have attempted to have a baby on several occasions. Five years ago, they had a first-trimester miscarriage, followed by an ectopic pregnancy later the same year. Jan continued to see her OB/GYN physician for infertility problems but was very dissatisfied with the response. After four miscarriages, she went to see a fertility specialist, who diagnosed her with severe endometriosis and polycystic ovarian disease (detected by hormone studies). The infertility physician explained that these two conditions were hampering her ability to become pregnant and thus making her infertile. She referred Jan to a genetic counselor. At the appointment, the counselor explained to Jan that one form of endometriosis (MIM 131200) can be a genetic disorder, and that polycystic ovarian disease can also be a genetic disorder (MIM 184700) and is one of the most common reproductive disorders among women. The counselor recommended that a detailed family history of both Jan and Darryl would help establish whether Jans problems have a genetic component and whether any of her potential daughters would be at risk for one or both of these disorders. In the meantime, Jan is taking hormones, and she and Darryl are considering alternative modes of reproduction. Using the information in Figure 16.4, explain the reproductive options that are open to Jan and Darryl.As outlined in this chapter, sex can be defined at several levels: chromosomal, gonadal, and phenotypic. To this we can add psychological sex, the sex one believes themselves to be. Determining someones sex is a complex issue that is often difficult to resolve, as the case of Bruce Reimer (see Section 7.1) illustrates. In spite of the complexity surrounding this issue, the International Olympic Committee (IOC) and the International Association of Athletics Federations (IAFF) still use sex testing on female athletes to determine whether they can compete in athletic events as females. This has led to serious personal, social, and legal issues, and the practice has been widely condemned and widely defended. Lets examine two such cases here. An Indian athlete, Santhi Soundarajan, finished second in the 800-meter run at the Asian Games in Doha, Qatar, in 2006. After the race, she was asked to take a sex test. According to press reports, the tests showed that she appeared to have abnormal chromosomes. An official stated that she had more Y chromosomes than allowed. As a result, she was stripped of her medal, banned from further competition by the Indian Olympic Association, and shunned by her local community. Before the race in Doha, Santhi had competed in 8 international competitions and won 12 medals. Sometime after this incident, she attempted suicide. She now runs a training school for athletes in Tamil Nadu, India. Although the number and types of tests done on Santhi have not been revealed, such tests usually involve examination of the external genitals, a chromosome analysis, and measurement of hormone levels. Suppose you were on the committee deciding whether Santhi could compete as a female. Consider each of the following hypothetical tests one at a time and base your conclusions only on the results of that test. The results of a physical examination show she has female genitals. On this basis, would you allow her to keep her medal and compete as a female in future races? Suppose the results of a chromosomal analysis shows that she has an XY chromosome set and is chromosomally male. Would you allow her to keep her medal and compete as a female? Lastly, suppose a test for hormone levels shows that she has levels of the male sex hormone testosterone that are higher than average for females but at least 10 times lower than the average for males. Would you allow her to keep her medal and compete in future races as a female? Now, put the results of all three tests together, and consider them as a whole. What are your conclusions? Now, lets consider the case of a South African runner, Caster Semenya, who won the 800-meter run at the World Championships held in Berlin, Germany, in 2009. After the race, she was asked to undergo sex testing. The IAAF stated that the tests were requested to ascertain whether she had a rare medical condition that gave her an unfair physical advantage. The nature of the tests and their results were not released, but press reports indicate that she did not have ovaries or a uterus, and had testosterone levels intermediate between the averages for males and females. In the end, the IAAF agreed to keep the results of her tests confidential, and Caster was allowed to keep her medal and return to international competition in 2010. In both cases, what the IAAF considers the threshold for determining who can compete as a female has not been stated. Based on what is known about the test results in this case and the hypothetical tests in the first case, do you think the outcome in each case was fair?
- Would ISCI be an option? Why or why not? Jan, a 32-year-old woman, and her husband, Darryl, have been married for 7 years. They have attempted to have a baby on several occasions. Five years ago, they had a first-trimester miscarriage, followed by an ectopic pregnancy later the same year. Jan continued to see her OB/GYN physician for infertility problems but was very dissatisfied with the response. After four miscarriages, she went to see a fertility specialist, who diagnosed her with severe endometriosis and polycystic ovarian disease (detected by hormone studies). The infertility physician explained that these two conditions were hampering her ability to become pregnant and thus making her infertile. She referred Jan to a genetic counselor. At the appointment, the counselor explained to Jan that one form of endometriosis (MIM 131200) can be a genetic disorder, and that polycystic ovarian disease can also be a genetic disorder (MIM 184700) and is one of the most common reproductive disorders among women. The counselor recommended that a detailed family history of both Jan and Darryl would help establish whether Jans problems have a genetic component and whether any of her potential daughters would be at risk for one or both of these disorders. In the meantime, Jan is taking hormones, and she and Darryl are considering alternative modes of reproduction. Using the information in Figure 16.4, explain the reproductive options that are open to Jan and Darryl.A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
