I-1 I-2 П-1 II-2 П-3 П-4 П-5 Il-6 Ш-1 Ш-2 III -3 Ш-4 III -5 Ш-6 III-7 III-8 IV-1 IV-2 IV-3 IV-4 IV-5 IV-6 IV-7 IV-8

Q: Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called…

A: Sir Gregor Mendel was a priest and a teacher who did the famous hybridization experiment on garden…

Q: Explain at the biochemical or enzymatic level, the phenotypic consequences of alleles incase of…

A: This is the phenomenon called incomplete dominance which is usually seen in snapdragons. In the…

Q: Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the…

A: Achondroplasia is an abnormality related to bone growth that includes obstruction in the formation…

Q: Describe the most common molecular mechanism for recessively inherited human genetic diseases such…

A: Cystic fibrosis is an inherited life threatening disorder which damages lungs and digestive system.…

Q: In ___________ heterogeneity, a variety of mutations in a singlegene cause disease. Compound…

A: The genetic heterogeneity occurs through the production of single or similar phenotypes through…

Q: A polydactylous, normal-visioned, brown-eyed man with wavy hair has a nonpolydactylous, blue-eyed…

A: Hi! Thanks for your question. As you have posted multiple sub-parts and have not mentioned which…

Q: In a study, an undergraduate student discovered a new enzyme involved in the metabolism of…

A: Enzymes are usually protein molecules which catalyzes several biochemical reactions. It works as a…

Q: Bloom's Syndrome is an autosomal recessive disorder due to mutations in a helicase protein. Some of…

A: Bloom syndrome is an inherited disorder characterised by low height, a sun-induced skin rash, and a…

Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…

A: Recessive gene traits are the ones which are expressed only when two copies of the recessive genes…

Q: Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called…

A: The Ehler-Danlossyndrome is a disorder caused by a mutation in the gene codes for the protein…

Q: Tay Sach's disease results from a mutation in the hexosaminidase A gene.  Heterozygotes are normal.…

A: Correct option is recessive lethal .

Q: Canavan disease in an autosomal recessive disorder caused by mutations in the gene that codes for…

A: Given the day disease is an autosomal recessive disorder. We can solve this by assuming that the…

Q: Alpha thalassemia is a hereditary blood condition that results in varying levels of anemia. It is…

A: Hemoglobin is an oxygen carrier protein that is made of four chains, two alpha, and two beta chains.…

Q: If a recessive mutation kills an individual during the early stages of its development, what is the…

A: Inheritance Inheritance is defined as the process of passing traits from parents to offspring. It…

Q: Sandhoff disease is due to a mutation in a gene that encodes a proteincalled hexosaminidase B. This…

A: Step 1 Genetic disorders are defects that are caused by a genetic mechanism. The genetic character…

Q: A couple intends to have children but consults a genetic counselor because the man has a sister with…

A: PKU or Phenylketonuria is a genetic disorder. It is a metabolic disorder in which there is a…

Q: Thalassemia is an inherited anemic disorder in humans. Affected individuals exhibit either a minor…

A: BASIC INFORMATION  THALESSEMIA  it is a type of genetic disorder which originated in Mediterranean…

Q: Suppose in a hospital in the United Kingdom, out of 98,543 of babies born in the last 20 years, 13…

A: Myotonic dystrophy is a chronic genetic disorder that affects muscle function. It is a type of…

Q: The following system models the exchange of nutrients between mother and fetus in the placenta:…

A: The mechanism below simulates the flow of nutrients between the mother and the fetus in the womb.…

Q: In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the…

A: Retinoblastoma is a rare retinal disease that develops a malignant tumor in the retinal layers of…

Q: Jacob and Patau Syndromes List the similarities and differences between these two syndromes. Which…

A: Jacob syndrome: Also known as XYY syndome/ XYY karyotype/ YY syndrome Patau syndrome:  Also known as…

Q: What is the genetic basis of the symptoms of Down syndrome?

A: Ans: In humans various diseases or disorders are caused by chromosomal aberrations or mutation in…

Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…

A: The normal colour of teeth is white hue color, a slightly yellowish layer for protection.

Q: The pedigree here shows the inheritance of a human disease knownas familial hypercholesterolemia.…

A: Pedigree analysis can be described as the record of a special genetical character or a disorder for…

Q: Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the…

A: In genetics, achondroplasia is defined as the rare type of genetic disorder related to the growth of…

Q: Hypercholesterolemia is caused by a defect on chromosome 19 and a mutation of LDL receptor. The…

A: Cholesterol Cholesterol is a fat-like waxy substance found in the blood which is necessary for our…

Q: A pattern of inheritance in which the form of a single trait is collectively determined by alleles…

A: Alleles are the variant form of a gene controlling a single trait. Usually, one gene controls one…

Q: What characteristics of the pedigree suggest that pancreatic cancer in this family is inherited as…

A: Introduction  Pedigree Analysis: This is the new approach to study the inheritance pattern in the…

Q: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in…

A: Genetics is a branch of science that deals in the study of genes, heredity, and genetic variation of…

Q: Patients with Down syndrome have three copies of chromosome 21, resulting in characteristics like a…

A: Mutation will causes changes in the genetic composition of an organism. In case of aneuploidy the…

Q: In a cross in Drosophila involving the X-linked recessive eye mutationwhite and the autosomally…

A: A gene is a unit of hereditary arranged in thousands on the strands of DNA(deoxyribonucleic acid)…

Q: Gene A, which encodes alcohol dehydrogenase, is labeled with a red fluorophore in a FISH experiment…

A: Introduction :- FISH( fluorosecent in situ hybridization ) is a technique in which a DNA probe ,…

Q: Phenylketonuria is one of the most common recessive genetic disorders in humans. Infants with PKU…

A: Given that, phenylketonuria is one of a recessive genetic disorder characterized by the absence of…

Q: Roberts Syndrome is an extremely rare genetic disorder that is characterized by mild to severe…

A: The pedigree indicates if the DNA is passed down unchanged from generation to generation. It can…

Q: Tay–Sachs disease is caused by loss-of-function mutations ina gene on chromosome 15 that encodes a…

A: Tay–Sachs disease can be defined as a hereditary condition that causes nerve cells present in the…

Q: Achondroplasia is an autosomal dominant disorder characterized by disproportionate short stature:…

A: Achondroplasia is an autosomal dominant disorder, which leads to short-limb dwarfism in humans. It…

Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…

A: DSPP gene that is responsible for discoloration of the teeth is present on chromosome number 4.   I…

Q: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in…

A: The small RNAs, antisense RNAs, used for exon skipping are complementary to bases in the pre- mRNA,…

Q: A polydactylous, normal-visioned, brown-eyed man with wavy hair has a nonpolydactylous, blue-eyed…

A: Introduction :- Astigmatism is a disorder in which your eye, particularly your cornea (the clear…

Q: In humans, the glucose-6-phosphate dehydrogenase (G6PD) gene involved in sugar metabolism is…

A: When a gene mutation (allele) is found on a sex chromosome (allosome) rather than a non-sex…

Q: hat is the genetic basis and phenotype for each of the following disorders: a) Edwards syndrome b)…

A: Ploidy: When the number of chromosomes changes, ploidy also changes. There are two types of Ploidy-…

Q: Prader-Willi syndrome is caused by a mutation in anautosomal maternally imprinted gene. Label the…

A: Prader-Willi syndrome(PWS) is a genetic disorder usually caused by deletion of a part of chromosome…

Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…

A: The normal colour of teeth is white hue color, a very slight yellowish layer for protection.

Q: the function of skeletal muscles used for movement and cardiac muscles used for heart beating.…

A: Mutations are the spontaneous changes in DNA molecule ultimately changing the Amino acid sequence…

Q: All of the following human genetic diseases exhibit maternal inheritance EXCEPT: A. Leber's…

A: Maternal inheritance is a pattern in which the genes from the mother is inherited to the offsprings.…

Q: In humans, the glucose-6-phosphate dehydrogenase (G6PD) gene involved in sugar metabolism is…

A: Genes are the basic unit of heredity. One gene has two alleles. Each allele is contributed by each…

Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.