I-1 I-2 П-1 П-2 П-3 II-4 П-5 Il-6 II-7 Ш-1 Ш-2 III-3 III-4 П1-5 Ш -6 Ш -7 III-8 IV-1 IV-2 IV-3 IV-4 IV-5

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: . In 1932, H. J. Muller suggested a genetic test to determine whether a particular mutation whose…

A: The rugose gene plays a crucial role in the formation of the correct retinal pattern in the eye. It…

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: The questions below all refer to the following pedigree. The locus for allele D/d determines how…

A:

Q: Genes that cause Prader-Willi syndrome and Angelman syndromeare closely linked along chromosome 15.…

A: Chromosome 15 contains closely linked genes which are paternally or maternally imprinted. Its…

Q: A condition known as icthyosis hystrix gravior appeared in a boy in the early eighteenth century.…

A: It passes from father to son and not from father to daughter.

Q: A. What are the genotypes of the following:  Jane: ______________________ James:…

A: Given  G6PDD (g)  = X-linked recessive condition. Fragile X syndrome (F) = X-linked dominant…

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: Researchers have identified a gene in humans that (when mutated) causes tremors and unstable walking…

A: DNA is the genetic material in most living organisms. It is the information hub of the cell that…

Q: what is the probability that he might be a carrier of the recessive gene?

A: Cystic fibrosis is associated with the CFTR gene that encodes a protein that helps thin the mucous…

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: A 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence…

A: Bone marrow or HSC (hematopoietic stem cells) transplantation is a procedure during which healthy…

Q: A particular disease is found in a group of South AmericanIndians. During the 1920s, many of these…

A: Any abnormal condition which affects the functions or structure of either the whole body or some…

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

A: Correct option is recessive lethal .

Q: Tamryn has a son who has Duchenne muscular son dystrophy, which is inherited as an X-linked…

A: The mutation in a chromosome may cause several genetic diseases that will carry to the offspring.…

Q: The accompanying pedigree shows the pattern of transmission of two rare human phenotypes: cataract…

A: Inheritance is the process of transmitting the traits from parent to offspring. Traits of an…

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: Club foot is one of the most common congenital skeletal abnormalities, with a worldwide incidence of…

A: Given data: Club foot is autosomal dominant trait with incomplete penetrance. It’s caused by PITXI…

Q: Lesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called…

A: Pedigree or family tree is a representation of an individual in a family or close relatives that…

Q: . Neurofibromas are tumors of the skin that can arisewhen a skin cell that is originally NF1+/ NF1−…

A: It is given that neurofibromas are skin tumors that can occur when a skin cell that is originally…

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: Brachyolmias are said to be heterogeneous and inherited in both dominant and recessive manners. What…

A: Brachyolmia is a rare type of bone disorder, which is genetically and clinically heterogenous 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: 18.Roberts Syndrome is an extremely rare genetic disorder that is characterized by mild to severe…

A: Answer :- Option (D) is correct. - 1/8.

Q: people with osteogenesis imperfecta have a dominant mutation in one of the two genes that produce…

A: Mutation - Mutation is defined as the sudden change or alteration in the DNA sequence. Mutation is…

Q: A mutation on an autosome causes a particular protein to be overproduced, and the excess protein…

A: Mutations are random changes in the genome.

Q: Mutations in gene “X” are responsible for breast cancer and can be inherited into the next progeny.…

A: Mendelian or gene related human disorders are caused due to mutation in single gene. They follow…

Q: | BRCA1 is a bi-allelic gene (let's call the two alleles as C and c) that is inherited on an…

A: Epistasis is a phenomenon by which a dominant allele of a gene prevents the expression of alleles of…

Q: In humans, a rare dominant disorder known as nail-patella syndromecauses abnormalities in the…

A: Pedigree analysis is a scientific approach that helps to study the inheritance of genes. In this…

Q: Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey…

A: A disease is a state of unhealthiness of the physical body, mind and social interaction. A disease…

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: Ectrodactyly is a rare condition in which the fingers are absent and the hand is split. This…

A: A pedigree chart is a family tree that depicts the genetic representation of inheritance of a…

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: Null mutations are valuable genetic resources becausethey allow a researcher to determine what…

A: Null mutation is a type of mutation in which a copy of gene becomes non-functional. This type of…

Q: Explain, at the molecular level, why human genetic diseases oftenfollow a simple Mendelian pattern…

A: Genes are the set of nucleotides present in a chromosome that encodes for particular information…

Q: Marfan syndrome is a rare inherited human disorder characterizedby unusually long limbs and digits…

A: Marfan syndrome is a genetic disorder of connective tissues. In this, the connective tissues present…

Q: a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease?…

A: Dent disease is a rare genetic disorder related to the kidney. This disease is characterized by the…

Q: Albinism occurs when cells cannot chemically synthesize pigment molecules. This occurs because the…

A: Albinism is a category of genetic illnesses in which the pigment melanin, which affects the colour…

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: A 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence…

A: Introduction: Beta thalassemia is an autosomal recessive inherited from abnormal genes of parent. In…

Q: When mice carrying the Avy allele exhibit a darker coat, thisphenotype is thought to be caused by…

A: When mice carry Avy allele, it exhibits the darker coat. This phenotype is thought to be caused by…

Q: . The production of pigment in the outer layer of seedsof corn requires each of the three…

A: Let Pr be purple, pr be red and acr be yellow. Part A. The phenotype of parent  P1 = AA CC RR prpr…

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.