Mr- and Mrs- Smith have three sons in elementary school- Two of their.pdf

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Mr. and Mrs. Smith have concerns about their youngest son Charles' slower development of speech and language skills compared to his siblings. Testing reveals Charles has a chromosomal disorder called XYY syndrome caused by a mistake during sperm formation where he received an extra copy of the Y chromosome. While XYY syndrome often causes no physical problems, it can increase risk of delays in learning development. The mistake that caused Charles' extra Y chromosome could have occurred during meiosis I in sperm formation.

Education

Mr. and Mrs. Smith have three sons in elementary school. Two of their children are progressing
normally, but their youngest son, Charles, has been much slower than his siblings in developing
speech and language skills. His parents are concerned that he has a learning disability and decide
to investigate further. Since some learning disabilities can be genetically based, their pediatrician
recommends a chromosomal analysis.
The results show that Charles has a trisomy of the sex chromosomes, diagnosed as XYY. A
mistake during sperm formation resulted in an extra copy of the Y chromosome. The extra copy
was passed on to Charles during fertilization. Most often, this chromosomal change causes no
unusual physical features or medical problems, but those with trisomy of the sex chromosomes
may have a higher-than-normal risk of delays in learning development.
During which stage of meiosis could this mistake have occurred?

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2 3 4 5 Mode of inheritance? Mode of inheritance? Inheritance of an X -linked recessive trait Red-green color blindness is X-linked in humans. If a male is red-green color blind, and both parents have normal color vision, which of the male's grandparents is most likely to be red-green color blind? maternal grandmother maternal grandfather paternal grandmother paternal grandfather either grandfather is equally likely Inheritance pattern for Tay Sachs disease A couple has a female child with Tay Sachs disease, and three unaffected children. Neither parent nor any of the four biological grandparents of the affected child has had this disease. The most likely genetic explanation is that Tay Sachs disease is inherited as a(n) disease. Predicting inheritance pattern from pedigree analysis A man whe had purple ears came to the attention of a human gencticist. The human geneticist did a pedigree analysis and made the following observations: In this family, purple ears proved to be an inherited trait due to a single genetic locus. The man's mother and one sister also had purple ears, but his father, his brother, and two other sisters had normal ears. The man and his normal-eared wife had seven children, including four boys and three girls. Two girls and two boys had purple ears. The purple-ear trait is most probably: autosomal, dominant autosomal, recessive sex-linked, dominant sex-linked. recessive cannot be determined from this information Determine the probable mechanism of inheritance: Autosomal recessive Autosomal dominant X-linked dominant X -linked recessive Y -linked recessive. Mitochondrial Determine the probable mechanism of inheritance: Autosomal recessive Autosomal dominant X- linked dominant X-linked recessive Y-linked recessive Mitochondrial Determine the probable mechanism of inheritance: Autosomal recessive Autosomal dominant X-linked dominant X- linked recessive Y-linked recessive Mitochondrial A man who had purple ears came to the attention of a haman gencticist, The haman geneticist did a peligree ansalysis and made the following observations: In this family. purple eark proved to be an inberited trait due to a single genetic locis. The man's mother and one sister also bad purple ears, but his father. his brotber. and two oker sisters had notmal ears. The mant and his normal-cared wife had seven children. including four boys and three girls. Two girls and two boys had purple ears. The porple-ear trait is most probably: autosomal, dominant autasional, recessive sor-linked. dominut sex-linked. nesessive cannot be determined from this information Determine the probable mechanism of inheritance:.

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Most human genetic disorders are due to autosomal recessive inheritance. Describe how an individual can acquire these conditions from parents that do not display symptoms. A man has an X-linked recessive form of pattern baldness. From which parent did he inherit this condition. Explain your answer. Sickle cell disease in an inherited human condition of the blood cells. Those who receive the allele from both parents (homozygous) has a fill blown sickle cell disease. A person who only has one copy of the allele (heterozygous) may experiences stickling of their blood cells under certain, stressful conditions. Give a simple explanation for the heterozygous individual having a mild form of the disease. Why do individuals who inherit an A type allele and a B type allele have blood type AB while a person who inherits an A type allele and an O type allele have blood type A? How are pedigrees useful in counseling couples regarding the likelihood they can pass a genetic disorder on to their offspring? A female child has the autosomal dominant condition of polydactyl. The mother has the normal number of fingers and toes while the father has six fingers on each hand. The couple has a second child, a boy, who has the normal number of fingers and toes. Give the genotype of each parent and each child. Draw a pedigree demonstrating polydactyl in the above family. What is the likely hood that if they have a third child they will be born with polydactyl? Solution Ques-1: Autosomal recessive trait is defined as a pattern of inheritance of an allele that is recessive over an autosome as well as two copies of this allele is essential for an expression of phenotype. In autosomal recessive inheritance, both the sons and daughters have a chance to be affected. Most human genetic disorders are due to autosomal recessive inheritance. An individual can acquire these conditions from parents that do not display symptoms because most of the parents carry mutated alleles so that they act as \"carriers\" for the mutated gene resulting in autosomal recessive disorder in the offspring For example, Tay-Sachs disease is a rare autosomal recessive genetic disorder cuased by mutations potentially affects nervous system in humans. Tay-Sachs disease is an autosomal recessive genetic disease, which results in progressive degeneration of nerve cells that causes physical and mental growth retardation eventually followed by death by the age of four. The disease occurs due to the deficiency of hexosaminidase A (HEXA) enzyme, which is needed for the breakdown of ganglioside GM2 (fatty acid). Tay-Sachs disease occurs due to the mutations in the hexosaminidase A (HEXA) enzyme, which causes degeneration of nerve cells..

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Chapter 3: The New Genetics Alma Villanueva, MA California State University, Los Angeles Overview Genetic Code The Beginning of Life Male & Female Twins Genotype & Phenotype Disorders Genetic Counseling Genetic Code Cells Basic unit of life Trillions! Nucleus Chromosomes Thread– like structures made up of DNA & protein 23 pairs DNA (Deoxyribonucleic acid) 2 strands twisted in a double helix Chemical composition of molecules that contain the genes Contains all of the information required to build/maintain the cell 3 Genes Small section of the chromosome 18,000 – 23,000 genes Each gene provides a unique recipe to make a protein 4 bases Code for your traits A - adenine T - thymine C - cytosine G – guanine Only 4 possible pairs A-T; T-A; C-G; G-C http://mybrainnotes.com/brain-dna-behavior.html 4 Allele A variation of a gene Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes Everyone inherits alleles from sperm & ovum Genetic diversity Distinguishes each person Allows the human species to adapt to pressures of the environment Genome Full set of genes with instructions to make a living organism Genomes exist for each species Video about Genes 5 The Beginning of Life Two Parents, Millions of Gametes Gamete Reproductive cell Sperm or Ovum Each contains 23 pairs Zygote Cell formed with union of Sperm & Ovum Produce a new individual with 23 chromosomes from each parent Conception http://predictingbabygender.info/tag/intercourse-timing/ Matching genes Genotype Organism’s entire genetic inheritance, or genetic potential. Homozygous (same zygote) Two genes of one pair that are exactly the same in every letter of their code Heterozygous Two genes of one pair that differ in some way Usually not an issue Male of Female? Humans usually possess 46 chromosomes 44 autosomes and 2 sex chromosomes SEX chromosome = 23rd pair Female – XX Male – XY Mother’s contain X Father’s may have X or Y X chrom. Is larger & more genes Y contain SRY, making male hormones & organs It's a girl! Uncertain Sex “ambiguous genitals,” = child's sex is not abundantly clear a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX shown here a baby boy (left) and girl (right). Too Many Boys? Is sex selection the parents’ right or a social wrong? Preference for boys in many areas of world Ways to prevent female birth Inactivating X sperm before conception In vitro fertilization (IVF) Aborting XX fetuses My Strength, My Daughter slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India The current sex ratio of children in India suggests that this campaign has not convinced every couple. New Cells Within hours of conception 23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome Two sets.

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