Akash Srivastava Period 1 Honors Biology Unit 5 Capstone: In Sickness and in Health: A Trip to the Genetic Counselor Part 1: Pedigree Construction: Part 2: Autosomal Dominant Traits: Part 3: Autosomal Recessive Traits: Part 4: Sex-Linked Inheritance: Part 5: Population Genetics: (SKIP) Part 6: Unsettled Issues: Part 1: Pedigree Construction: Part 2: Autosomal Dominant Traits: 1. Do autosomal dominant disorders skip generations? No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have …show more content…
To summarize, since neither Greg nor Olga has myotonic dystrophy, their children will not have the disease. Part 3: Autosomal Recessive Traits: 1. What are the hallmarks of an autosomal recessive trait? The main hallmark of an autosomal recessive trait is that both men and women have an equal chance in acquiring the trait. 2. What does consanguineous mean? Why is this concept especially important when discussing recessive genetic disorders? Consanguineous means people coming from the same heritage. This is especially important when discussing recessive genetic disorders because it could affect the chances of someone occupying the disease. 3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait? The trends point to factor viii not being autosomal recessive trait because clearly it seems to be affecting males significantly more than females. This would mean that the trait does not affect the males and females equally which takes away from the hallmark of an autosomal recessive trait where they have equal chances. Part 4: Sex-Linked Inheritance: 1. What are the characteristics of X-linked recessive inheritance? The characteristics of and X-linked chromosome are that they are never passed from a father to his
12. Explain why more males tend to suffer from X-linked disorders than females. (5 points) Males tend to suffer from X-linked disorder more often than females because females have more X chromosomes than males.
5. Males transmit their Y chromosome to their sons. This means that sons will not inherit an X-linked recessive condition from their father.
The likelihood of close relatives sharing the same recessive alleles is greater than in the general population, raising the risks that a child would be homozygous recessive for a trait.
1. What is the likelihood that any of their children (sons and/or daughters) will be born with the disorder?
Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.
* How is it possible for an offspring to exhibit a recessive trait if neither parent exhibited that
b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.
Furthermore, people born with this unique genetic defect share some similar characteristic traits and features that are both physical
The purpose of this paper is to complete a Genetic and Genomic Nursing Assessment to analyze family genetic health risks. Genomics is the study of genes in the human genome and their interactions with each other and the environment and genetics is the study of individual genes and their effect on clinical disorders (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). Nurses should be able to perform an assessment of a family 's genetic health risks by using a three-generation family pedigree to obtain information regarding possible genetic inheritance pattern and recurrence risks. The family chosen for this paper has a history of chromosome balanced and unbalanced translocation. A balanced translocation is a chromosomal abnormality that if unbalanced (too much or too little genetic material) can lead to infertility, multiple miscarriages, or a child with congenital abnormalities, developmental issues, etc. A balanced translocation does not have a straightforward inheritance pattern. It depends on the chromosomes involved, if the carrier is a male versus female and how much genetic material is involved in the translocation itself.
Introduction: The gene that codes for red-green color blindness, the most common form of color blindness in humans, is found on the X chromosome. One in 12 males is color blind. In females, however, color blindness affects only about 1 in 200. Why is
The first generations are skipped, although Nicolas (1904-18) was a hemophiliac, neither his parents nor grandparents were. This pattern occurs in several other places of the pedigree, and indicates a recessive mode of inheritance. From the biochemical nature of the defect, scientists have determined that hemophilia is a recessive trait. All the affected individuals are sons, strongly suggesting that the defect is a sex linkage trait. Since males are hemizygous for the X chromosome, more males than females should have the phenotype of
The gene carrying the defect that produces albinism is recessive, which means that both parents must carry this recessive gene in order to produce a child with the condition. When both parents carry the gene (and neither has albinism), there is a one in four chance with each pregnancy that their child will have albinism. The inheritance pattern of ocular albinism is alittle different. This condition is X-linked, meaning that the recessive gene for ocular albinism is located on the X chromosome. X-linked ocular albinism appears just about only in males who inherit the condition from their mothers.
Albinism is inherited. For a child to come down with the condition, both parents must carry the albinism gene. Neither parent may actively have Albinism but must carry the gene. There is a 25% chance that any of their children may inherit albinism. This would be an autosomal recessive inheritance. (aapos.org)
The second most common type of hemophilia is hemophilia B and is also known as factor IX deficiency, or the Christmas disease. It, like Hemophilia A, is an inherited disorder. It appears much less than Hemophilia A and occurs in “approximately 1 in 25,000 male births, and
The pairs of alternative traits examined segregated among the progeny of a particular cross, some individuals exhibiting one traits, some the other