I-1 I-2 II-1 II-2 II-3 II-4 II-5 II-6 IF7 III-1 III-2 III-3 III-4 III-5 III-6 III-7 III-8 IV-1 IV-2 IV-3 IV-4 IV-5

Q: The complete absence of one or more teeth (tooth agenesis) is a common trait in humans—indeed, more…

A: Tooth agenesis is a condition in which teeth are missing because of some genetic abnormality. The…

Q: scientists published a paper describing three unusual human families where some individuals ex-…

A: Mitochondrial DNA is unique because it is only passed from the mothers to the developing zygote.…

Q: Campomelic dysplasia (CMD1) is a congenital humansyndrome featuring malformation of bone and…

A: Campomelic dysplasia is a rare genetic disorder characterized by bowing of the long bones and many…

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: 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. 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: For decades scientists have been perplexed by different circumstances surrounding families with…

A: Genetics is the branch of biology which deals with genes, heredity, and genome in the organism.…

Q: Thomas discovered a devastating piece of family historywhen he learned that his brother had been…

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

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: 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: 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: 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: A couple planning their family are aware that through the pastthree generations on the husband’s…

A: All the 46 chromosomes carry important information for the growth and development of the embryo. If…

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: In 1995, doctors reported a Chinese family in whichretinitis pigmentosa (progressive degeneration of…

A: Since you have posted a question with multiple sub-parts, we are answering only first one for you.…

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

A: Ectrodactyly is a genetic disorder which is usually inherited as an autosomal dominant trait. The…

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: A rare class of dominant gain-of-function _______ arisesfrom neomorphic mutations that generate a…

A: Genes are the hereditary unit of the DNA that when expressed display a certain phenotype. A…

Q: Yesterday, when Daniel was showering after a basketball game in the gym, one of his friends asked,…

A: Many of the people on the earth are nowadays affected by the dreadful disease cancer. The cancer is…

Q: The accompanying pedigree is for a rare, but relativelymild, hereditary disorder of the skin.a. How…

A: The mating id done beween the genotypes Dd and dd. Hence, we conclude from this that the probablity…

Q: A rare dominant mutation expressed at birth was studiedin humans. Records showed that six cases were…

A: Answer : Since 2 cases were the ones which already had the mutation already present in their…

Q: A couple planning their family are aware that through the pastthree generations on the husband’s…

A: The karyotype banding analysis is the test that is done in a person's DNA for finding the normal and…

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: Diamond–Blackfan anemia (DBA) is a rare, dominant geneticdisorder characterized by bone marrow…

A: Genetic diseases are inherited among different members of the same family. Dominant diseases have…

Q: In examining a large sample of yeast colonies on a petridish, a geneticist finds an abnormal-looking…

A: It has been observed that there is an equal amount of segregation that takes place within a…

Q: . For several years, Hans Nachtsheim investigated an inherited anomaly of the white blood cells of…

A: Genetics of disease: P allele = Pelger anomaly geneNallele = normal segmentationPP genotype =…

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: The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product,…

A: Introduction: Bicoid (Bcd) protein is a product of the bicoid gene having a maternal effect and is…

Q: Consider two hypothetical recessive autosomal genesa and b, where a heterozygote is testcrossed to a…

A: Two hypothetical recessive autosomal genes a and b. a heterozygote is testcrossed to a double…

Q: Duchenne muscular dystrophy is a recessive disorder caused by a rare,loss-of-function allele that is…

A: Duchenne muscular dystrophy (DMD) is a quickly progressive type of muscular dystrophy that happens…

Q: In Drosophila, a cross (cross 1) was made between twomutant flies, one homozygous for the recessive…

A: Homozygous organisms are those that have two identical alleles. These can either be dominant or…

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: 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: The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product,…

A: A homozygous male (bcd⁻/bcd⁻) child is possible only when the mother is heterozygous (bcd⁺/bcd⁻) and…

Q: Among mammals, measurements of the rate of generation of autosomal recessive mutations have been…

A: Scientists analyze mutations in model organisms such as mice, to understand the molecular basis of…

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: The drug ivacaftor has recently been developed totreat cystic fibrosis in children with the rare…

A: The drug known as ivacaftor was developed for the treatment of cystic fibrosis in children who have…

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: . Among adults with Turner syndrome, it has beenfound that a very high proportion are genetic…

A: Turner Syndrome: Turner syndrome is a chromosomal condition that affects only females when one of…

Q: A boy with Klinefelter syndrome (47,XXY) is born to a motherwho is phenotypically normal and a…

A: XX is female and XY is male. Klinefelter syndrome is a condition when the male has one more extra X…

Q: Marfan’s syndrome is a disorder of the fibrous connective tissue, characterized by many symptoms,…

A: Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. People with…

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.