Campomelic dysplasia (CMD1) is a congenital humansyndrome featuring malformation of bone and cartilage.It is caused by an autosomal dominant mutation of agene located on chromosome 17. Consider the followingobservations in sequence, and in each case, draw whateverappropriate conclusions are warranted.(a) Of those with the syndrome who are karyotypically46,XY, approximately 75 percent are sex reversed,exhibiting a wide range of female characteristics.(b) The nonmutant form of the gene, called SOX9, isexpressed in the developing gonad of the XY male,but not the XX female.(c) The SOX9 gene shares 71 percent amino acid codingsequence homology with the Y-linked SRY gene.(d) CMD1 patients who exhibit a 46,XX karyotypedevelop as females, with no gonadal abnormalities.
DNA and RNA
Deoxyribonucleic acid (DNA) is usually called the blueprint of life. Deoxyribose is a monosaccharide that has a key function in the synthesis of deoxyribonucleic acid. One less oxygen-containing hydroxyl group occurs in deoxyribose sugar. Nucleic acid, deoxyribonucleic acid, is one of the natural components. Deoxyribonucleic acid is a double-stranded molecule. Watson and Crick postulated the double-stranded model of the helix. A deoxyribonucleic acid is a molecular group that carries and transmits genetic information from parents to offspring. All eukaryotic and prokaryotic cells are involved.
DNA as the Genetic Material
DNA, or deoxyribonucleic acid, is a long polymeric nucleic acid molecule discovered in the late 1930s. It is a polymer; a long chain-like molecule made up of several monomers connected in a sequence. It possesses certain characteristics that qualify it as a genetic component. Certain organisms have different types of nucleic acids as their genetic material - DNA or RNA.
Genetics
The significant branch in science which involves the study of genes, gene variations, and the organism's heredity is known as genetics. It is also used to study the involvement of a gene or set of genes in the health of an individual and how it prevents several diseases in a human being. Thus, genetics also creates an understanding of various medical conditions.
DNA Replication
The mechanism by which deoxyribonucleic acid (DNA) is capable of producing an exact copy of its own is defined as DNA replication. The DNA molecules utilize a semiconservative method for replication.
Campomelic dysplasia (CMD1) is a congenital human
syndrome featuring malformation of bone and cartilage.
It is caused by an autosomal dominant mutation of a
gene located on chromosome 17. Consider the following
observations in sequence, and in each case, draw whatever
appropriate conclusions are warranted.
(a) Of those with the syndrome who are karyotypically
46,XY, approximately 75 percent are sex reversed,
exhibiting a wide range of female characteristics.
(b) The nonmutant form of the gene, called SOX9, is
expressed in the developing gonad of the XY male,
but not the XX female.
(c) The SOX9 gene shares 71 percent amino acid coding
sequence homology with the Y-linked SRY gene.
(d) CMD1 patients who exhibit a 46,XX karyotype
develop as females, with no gonadal abnormalities.
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