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Human Genetics Notes: Human Chromosomes Cell biologists analyze chromosomes by looking at ________________. Cells are ___________________ during mitosis. Scientists then cut out the chromosomes from the _________________ and group them together in pairs. A picture of chromosomes arranged in this way is known as a _____________. Two of the 46 human chromosomes are known as ______________________, because they determine an individual's _________. Females have _______ copies of an ________ chromosome. Males have _______ _____ chromosome and _____ ____ chromosome. The remaining __________chromosomes are known as autosomal chromosomes, or _________________. All human egg cells carry a single ______chromosome (____,___). ________of all sperm cells carry an X chromosome (____,___) and _______ carry a Y chromosome (____,___). About _________of the ___________ will be 46,XX (__________) and half will be 46,XY (_____________). Males and females are born in a roughly _____:_____ ratio because of the way in which sex chromosomes _______________during ______________. Make a Sex Chromosome Punnett Square: Human Traits They have to study how the trait is passed from one generation to the next. ________________Charts A ________________ chart shows the relationships within a ______________. Label the pedigree to the right. Show: male, female, infected, marriage line, childe line, and all genotypes Genes Some obvious human traits are almost impossible to associate with _____________ genes. Traits, such as the shape of your eyes or ears, are ______________, meaning they are controlled by many genes. Human Genes The human genome includes tens of __________________ of genes. In 2003, the DNA sequence of the ________________________ was published. In a few cases, biologists were able to identify __________ that directly control a _______________ human trait such as __________________. Blood Group Genes A ________________ of genes are responsible for human blood groups. The best known are the _________blood groups and the ______ blood groups. The ___________ blood group is determined by a single gene with two alleles— ____________ and _____________. The positive (______) allele is ___________, so individuals who are __________ or ____________ are said to be Rh-positive. Individuals with two _________ alleles are said to be Rh-negative. ABO blood group There are three alleles for this gene, ____, _____, and _____ Alleles IA and IB are _____________ Individuals with alleles IA and IB produce both A and B ____________, making them blood type __________. The i allele is ______________. Individuals with alleles ______ or _______ produce only the A antigen, making them blood type A. Individuals with _________ or __________ alleles are type B. Individuals who are __________________ for the i allele (____) produce no ____________ and are said to have blood type __________. Fill in the table below: Blood type Genotype Antigen Present Donate Blood to Receive Blood from A B AB O Recessive Alleles The presence of a normal, functioning gene is _______________ only when an abnormal or nonfunctioning allele affects the ________________. Many disorders are caused by ___________________ alleles. Examples: Dominant Alleles The effects of a dominant allele are ______________ even when the recessive allele is present. Examples of Autosomal Dominant Disorders: Codominant Alleles Sickle cell disease is a serious disorder caused by a _______________ allele. Sickle cell is found in about _______ out of _______ African Americans. In both cystic fibrosis and sickle cell disease, a ____________change in the DNA of a _____________ affects the structure of a protein, causing a serious genetic disorder. Cystic Fibrosis Cystic fibrosis is caused by a ________________ allele. Sufferers of cystic fibrosis produce a thick, heavy mucus that clogs their _________ and ____________ passageways. Sickle Cell Disease Sickle cell disease is a common genetic disorder found in _________________. It is characterized by the _________ and __________ shape of the _______ blood cells. ___________________ is the protein in red blood cells that carries __________. In the sickle cell allele, just __________________ is changed. As a result, the _________________ hemoglobin is less soluble than normal hemoglobin. Low __________________ levels cause some red blood cells to become sickle shaped. People who are __________________for the sickle cell allele are generally healthy and they are resistant to ________________. Sex-Linked Genes The X chromosome and the Y chromosomes determine ________. Genes located on these chromosomes are called ______________________. The Y chromosome is much ______________ than the X chromosome and appears to contain only a few genes. Why are sex linked disorders more common in males? For a _________________ allele to be expressed in females, there must be ____ copies of the allele, one on each of the two X chromosomes. Males have just ______ X chromosome. Thus, all X-linked alleles are expressed in males, even if they are ______________. Colorblindness Three human genes associated with color vision are located on the ____- chromosome. In males, a defective version of any one of these genes produces colorblindness. Make a Punnett square of a sex-linked cross: Normal male, heterozygous mother. Hemophilia The X chromosome also carries genes that help control ________________. A ________________ allele in either of these two genes may produce hemophilia. In hemophilia, a ________ necessary for normal __________________ is missing. Hemophiliacs can bleed to __________ from cuts and may suffer internal bleeding if ____________. Duchenne Muscular Dystrophy Duchenne muscular dystrophy is a _________________ disorder that results in the weakening and loss of _______________ muscle. It is caused by a defective version of the gene that codes for a ___________ ____________. X-Chromosome Inactivation British geneticist Mary Lyon discovered that in female cells, ________________ is randomly switched _______. This chromosome forms a dense region in the ____________ known as a _________ body. _________________ are generally not found in males because their single ____ chromosome is still active. Other Chromosomal Errors: The most common error in _____________ occurs when homologous chromosomes fail to _________________. This is known as ______________________, which means, “not coming apart.” If ___________________occurs, abnormal ______________ of chromosomes may find their way into gametes, and a disorder of chromosome numbers may result. Draw nondisjunction: Down Syndrome If _______copies of an __________________ chromosome fail to separate during _______________, an individual may be born with ___________ copies of a chromosome. Down syndrome involves three copies of chromosome ________. Down syndrome produces mild to severe _______________________. It is characterized by: • increased susceptibility to many _______________ • higher frequency of some _______________________ Sex Chromosome Disorders In females, nondisjunction can lead to _________________ syndrome. A female with Turner’s syndrome usually inherits only _________ chromosome (karyotype ____,____). Women with Turner’s syndrome are ______________. In males, nondisjunction causes ______________ syndrome (karyotype ____,_______). The extra _____ chromosome interferes with meiosis and usually prevents these individuals from _____________. Human DNA Analysis There are roughly ____________________base pairs in your DNA. Biologists search the human genome using sequences of DNA bases. Genetic tests are available for hundreds of _________________. DNA Fingerprinting DNA fingerprinting analyzes sections of ____________ that have little or no known ________________ but vary widely from one individual to another. Only ________________________ are genetically identical. DNA samples can be obtained from __________, _________, and _________ ___________ with tissue at the base. Chromosomes contain large amounts of DNA called ______________ that do not code for _______________. This DNA pattern ____________ from person to person. _________________________ are used to cut the DNA into fragments containing genes and repeats. DNA fragments are separated using _____________________________. Fragments containing repeats are labeled. This produces a series of bands—the ________________________.