Rita Calbay
July 2, 2015
Christopher Moffatt
Reproductive Physiology
Mutation in the SRY gene The SRY gene is a very important aspect in determining the sex of an individual. In fact it is the SRY that specifically could be seen as the powerhouse machine in determining the sex of an individual. The SRY gene commonly called the Sex Determining Region of the Y- chromosome can normally cause the testis to develop rather than an ovary when it is presented in the chromosome. The function of the SRY gene is to provide a set of instructions for making the Sex-Determining region of the Y protein, which can also perform as a transcription factor, binding to specific regions of DNA and aid in the control and regulation of particular genes. Changes
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The testes are one of the physical differences that are seen within men that has this disorder with the assumption that theses phenotypic differences are contingent to the proximity of the SRY gene in addition to the absence of the rearrangement that directly modifies SRY gene expression. The rearrangement of the SRY gene can cause a cascade of effects especially with the expression of the SOX 9. The influence of SOX 9 aids in the function of testes development. PCR assay have been utilized in order to reveal the significance of SOX 9 and how it aids in the development. The PCR assay sequenced genes that were used in the coding section of SOX 9, but the specific strain that was used not clearly defined. It was shown through three assays that it confirmed the idea that if the SRY gene were not present it would aid in the mutation of testicular development. Although this experiment was proved to show definite results, it did not show what the three independent PCRs were specifically targeting in the assay. The author was trying to prove that without the SRY gene a male phenotype would still develop, but the physical appearances of these men would be slightly modified to be less normal with small testes that were deemed infertile. The results that were displayed has risen more questions then finding a closer clue as to how the SRY gene could make a man infertile with malformation of the testes. Instead it questioned whether or not the SRY gene could ultimately be the cause of infertility despite having the mutation
The X and Y chromosomes are what determine the gender of a person. Depending on whether the sperm that impregnates a female carries an X or Y will determine the gender of the offspring. A Y chromosome will cause the offspring to be male while if the offspring has an X it will be female. Some offspring will be born with more X’s or Y’s often know as klinefelter syndrome, XXXY syndrome, 49,XXXXY syndrome, XXX syndrome, and tetrasomy X. Males with klinefelter syndrome, XXXY syndrome, and 49, XXXXY syndrome are still male though many suffer from shorter stature, enlarged breasts, hypogonadism, cryptorchidism, and deficient growth hormones. Women who have XXX syndrome and tetrasomy X are still female, but women with XXX syndrome will
Normally the baby is conceived with the usual 46 chromosomes. Then during cell division the chromosomes are divided into half the egg, and half the sperm, which end up with 23 chromosomes each. Although and error can occur during Monosomy is where the complete sex chromosome is missing, because of the fathers sperm or even the mothers egg. Mosaicism is when an error occurs in cell division in the early stages of fetal development and leads to cells in the body having two complete copies of the X chromosome, while others having only one copy of the X chromosome (Mayo Clinic, 2017). If there is a fully developed X chromosome and partial of a Y chromosome then the individual will develop as a female, with the risk of developing a type of cancer called gonadoblastoma. 45,X/46,XY affects a small percentage of girls with Turner's; small fragments of Y chromosome are in their cells, which can increase the risk of developing tumors, along with gonadoblastoma, in their internal sex organs. Deltion, ring chromosome, and isochromosome are different types of variations of Turner's Syndrome. Deletion is when the X chromosome is missing some of its genetic material. Ring chromosome is where there is two X chromosomes, but one is shaped like a circle with the ends joined. Along with isochromosome which is the X chromosome has two long arms instead of a long and short arm. (Turner's Syndrome Society,
The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.
The reproductive system is one of the eleven human body systems that both meth and women have, yet function differently depending on the gender. How do these similar, yet different systems work together to conceive and produce offspring? The reproductive system is a complex system with key components regarding the parts of the male reproductive system, the female reproductive system, and the process of how a female egg is fertilized by a male sperm cell.
Ovation Fertility is proud of our Nashville genetics lab, which offers our patients PGD using FISH and CCS under the director of Amy Jones, MS.
In my opinion, after reading this article, there was some good and bad about sexual reproduction. As it stated in the article, parents can choose an embryo between 100 of them. They get to pick the embryo that based on their expected characteristics. The bad thing about this is that sometimes when the children grew up but they ended up do not like how their parents want, the parents will be the most disappointed in their children.
XYY Syndrome is a condition where a male has an extra Y chromosome in his genes. This can be known as “Jacob’s Syndrome, XYY Karyotype or YY Syndrome”. Having this condition does not mean that an individual life would have a massive impact although there are some factors that may cause issue such as being taller than an average height person of the specific age, learning difficulties, speech problems, minor physical differences such as weaker muscles and bones. The condition can cause delayed puberty, which is why when a male is older he could fact fertility issues, and complications related to low testosterone levels. Saying this, XYY Syndrome does generally distinctive physical features or complications and have a normal sexual
The resources available in this course for the week 3 readings of The Female and Male Reproductive Systems were helpful. The resources were beneficial and in-depth and provided detailed information about the reproduction process for males and females. The three resources I found helpful this week in learning about the puberty and the reproduction system were the interactive glossary, anatomical images, and the self-care assessments to check for any unordinary signs or issues. The resources helped to enhance the learning and provided a better understanding of reproduction for both genders.
While there are three phenotypes for androgen insensitivity, for the purpose of this particular paper, the complete androgen insensitivity syndrome phenotype will be the one elaborated upon. The typical phenotype for someone with androgen insensitivity is hyper feminization of a male (with XY sex chromosomes) to the point where the genitalia are not masculine and may contain elementary müllerian structures (Gottlieb et al. 1999). The male embryo should produce a protein in the womb known as the Anti-Müllerian hormone which is facilitated by the AMH gene - a cluster of proteins that ensures sex differentiation occurs in fetal development. It is entirely possible that a male embryo does not release the Anti-Müllerian hormone because the testis are not suppressing the müllerian structures. In turn the wolffian ducts, structures that include the epididymis, vas deferens, and seminal vesicles, only partially die. Partially is used here because there are both male and female characteristics presented by those with androgen insensitivity. AMH should interact with the Anti-Müllerian hormone receptors to target the Müllerian ducts and “kill” the structures. Without the supressment rudimentary Müllerian structures begin to present themselves, since the embryo is genetically male and has more development to do to characterize itself as such the structures do not get fully finished. These structures would hold the ability to produce female characteristics as they would need to serve their purpose in the
The XYY Syndrome is a rare chromosomal disease that affects males by having two Y chromosomes instead of one. Those affected are usually taller, have learning disabilities, excess acne problems (during adolescence), and behavior problems. Although they do have learning disabilities, their IQs are mostly normal, although slightly
Klinefelter syndrome, also known as “47, XXY”, is a chromosomal disorder caused by nondisjunction. Nondisjunction occurs when chromosomes do not separate fully during meiosis. This results in sex cells with the wrong number of chromosomes. A zygote with two X chromosomes and one Y chromosome forms when a normal sex cell, which is a sperm or egg cell, combines with a sex cell which has an extra X chromosome. The extra X chromosome will show up in the karyotype of an infected individual. Individuals with Klinefelter syndrome have two X chromosomes and one Y chromosome, giving them a total of 47 chromosomes, as opposed to the normal 46. Unaffected males have one X and one Y chromosome, and females have two X chromosomes. Even though individuals
After a week of taking the egg baby around, having my boyfriend babysit it while I was at work, walking around my neighborhood wearing an egg-baby pendant around my neck like a crazy person, and having to explain to my friends why an egg with a face was on the dinner table (and what it was that I did again for work), I was definitely happy to get rid of it. In fact, I planned on ceremoniously cracking it at the end of the week, but I haven't brought myself to do it yet. Something about her
Klinefelter’s syndrome is also called XXY. It is called this because Klinefelter’s syndrome is when you have two X chromosomes and one Y chromosome.This is called nondisjunction when there is an error in cell division that leads to a cell having two chromosomes instead of one. This happens in the sperm and the eggs.
Even if the percentage for hormonal and gonadal abnormalities is more compared to chromosomal abnormalities in SA, cytogenetic investigation is a must. The percentage of total CA (16%) in SA of the present study will hold good with previous studies which vary from 5 – 33.3% and pure numerical abnormalities (45,X; 47,XXX) could not be observed (table 3). The CA observed was only X mosaicism in two of the studies (gupta, Butnarui) as compared to present study (16/43%). The percentage for X mosaicism was almost equal in a study done by Wong (14/45.1%) and the present study. The XY female and its variants were not observed in other studies except in two (Opitz, 1/20%; Kalavathi, 1/11.1%) which was less compared to present study (8/22%). The structural abnormality was at a higher range in the study done by Kalavathi (6/66.7%) followed by Safai (3/60%).
Invasive procedures including chorionic villus sampling and amniocentesis in sex-linked diseases increase the risk of fetal loss. Therefore, Noninvasive fetal gender determination using cell-free fetal DNA (cffDNA) in maternal plasma may be promising. Fifty pregnant women with gestational age between sixth to tenth weeks were included. cffDNA were extracted from maternal plasma and amplified by real time PCR and conventional PCR for detection of SRY, DYS14 and DAZ genes as specific genetic markers for male-bearing pregnancies. In general, sensitivity and specificity of real time PCR was better than conventional PCR. However, sensitivity of DYS14 gene and specificity of SRY gene by real time PCR was equal to those of conventional PCR. Sensitivity of DYS14 gene was the highest and sensitivity of SRY gene was the lowest. However, combination of the three Y-chromosome sequences in the diagnosis increased the test accuracy, which is suitable for clinical application.