I. II. III. 1-4 1 1-1 ✓ [Select] 2/3 0 1 1/2 11-3 [Select] 1 II-4 [Select] 2 2 3 1 This pedigree shows cidence of an autosomal recessive trait a huma family. Choose from the drop down menu to report the probability of carrier status for: 3 5
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- 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?70 T 꿈 ㅁ ㅁ 이어어어어어어 In the pedigree shown, indicate whether each of the following inheritance patterns is possible by selecting YES or NO from the appropriate drop down menu. Y-linked Autosomal Recessive Autosomal Dominant X-linked Recessive X-linked Dominant ()
- tion 8: below is the pedigree of inheritance of phenylketonuria (PKU). We will designate the letter Caven for the dominant allele and "p" for the recessive allele. 4 The pedigree shows that the pattern of inheritance for the allele for phenylk ylketonuria is: I. II. 1 III. IV. Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive b. The parents in generation I have how many children: I. 3 Boys II. 3 Girls III. IV. 3 Boys and 1 Girl 3 Girls and 1 Boy c. What is the genotype of individual 1 in generation III: I. PP II. pp III. Pp " O 1 III. 50% E III 1 ▬ 2 2 IV. 25% 1 3 IV. Can be PP or Pp ii. Suppose that a man having type AB blood marries a woman having type O blood. What is the probability that their child will have type A blood? I. 100% II. 75% 2 4 315 1 point What is the most likely mode of inheritance of the disease depicted in the following pedigree? ||| IV 1 autosomal dominant autosomal recessive 2 N 1 2 2 3 3 4 3 4 5 --DAll the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this Autosomal Dominant condition, but they exhibit no symptoms.What is the percentage level of penetrance for the condition in the diagram?
- Consider the following pedigree. 하 3 10 (5 3 2 (a) What pattern of transmission is most consistent with this pedigree? (1) autosomal recessive, (2) autosomal dominant, (3) X-linked recessive, (4) X-linked dominant. (b) If individual V-2 marries a normal individual, and if the condition has a pene-trance of 85 percent, what is the probability that their second child will express the trait? (c) On the third line, what does the diamond with a 10 in the middle mean?2. 235O 4) Q7. Haemophiliacs possess a non-functional form of the gene responsible for the production of blood clotting factors. Shown below is the occurrence of haemophilia in one family. = male = female = male haemophiliac 7. 8. 5. 9. 3. 11 12 Usingthe following symbols: H = dominant allele h = recessive allele 1) State the genotypes of the following individuals. Individual Genotype 1. 6. 2) On the basis of the information provided, is the inheritance of haemophilia: (i) autosomal or sex-linked? (ii) dominant or recessive? 3) State the probability of individual 8 being a carrier of haemophilia. 4) Explain why only females can be carriers of haemophilia.zto.mheducation.com/ext/map/index.html?_con%=con&external_browser=0&launchUrl=https%253A%252F%252Flms.mheducation.com%252Fmghmiddleware? er 10 Assignment Saved Classify the following conditions based on whether they are describing autosomal dominance, autosomal recessive, or both. Autosomal Dominant Affected children can have unaffected pped parents Book Print Heterozygotes are affected erences Autosomal Recessive Heterozygotes have a normal phenotype Both males and females are affected with equal frequency Both Affected children have at least one affected parent 080 acer -> %24 % 2. 6.
- Cystic Fibrosis (CF) is an autosomal recessive condition. Therefore, heterozygous (Cc) carriers do not display symptoms. Two parents who are carriers plan to start a family and you are a genetic counselor helping to advise them about their chances of having children affected by CF. a) Suppose the couple has 4 children, each one year apart. What is the probability that all 4 children will inherit CF? b) What is the probability that any 3 of their 4 children will not inherit CF, but 1 will be affected? c) What is the probability that their first child will not inherit CF, but the younger 3 children will inherit CF?Please consider the following pedigree. Assume that people who marry in to the family do not carry the allele unless otherwise indicated. Assume complete penetrance. I II 5 6 III 6 IV 1 2 a. Is it possible for the inheritance pattern for the trait illustrated in this pedigree to be as a result of each of the following? Answer yes or no. (i) an autosomal recessive allele (AR) (ii) an autosomal dominant allele (AD) (iii) a X-linked recessive allele (XR) (iv) a X-linked dominant allele (XD) b. Provide a genotype for individual III-6 for the most likely mode of inheritance as determined in (a).17-19. A man and women of normal phenotype have a son with Duchenne muscular dystrophy, a sex-linked recessive disorder. They are planning to have another child and you ask for genetic counseling for the following: A. What is the likelihood that another child will have this disease if it is a boy?___ B. What is the likelihood that another child will have the disease if it is a girl? C. What is the overall chance of any child in their family getting the disease? OA= 1/4 or 25%, B = 0%, C = 3/4 or 75% A = 1/2 or 50%, B = 1/2 or 50%, C = 1/4 or 25% OA = 1/2 or 50%, B = 0%, C = 1/4 or 25% A = 0%, B = 0%, C = 1/4 or 25%