Showing 5 results for Fish
Semra Kahraman, Nacati Findikli,
Volume 2, Issue 1 (7-2004)
Abstract
Since its first clinical application in early 90s, preimplantation genetic diagnosis (PGD) has became a powerful diagnostic procedure in clinical practice for avoiding the birth of an affected child as well as increasing the assisted reproductive technologies (ART) outcome . The technique involves the screening of preimplantation embryos for chromosomal abnormalities in certain indications such as advanced maternal age, repeated abortions and translocations, or for single gene defects, the majority of which are cystic fibrosis and thalassaemias. In this context, it becomes an alternative option for traditional prenatal diagnosis. So far, more than 1000 unaffected babies have been born after PGD, indicating that the procedure is safe and effective in prevention of genetic defects as well as increasing the ART outcome. Besides its diagnostic value and expanding indications such as cancer predisposition, dynamic mutations and late onset disorders, a new feature, namely preimplantation human leuckocyte antigen (HLA) typing also demonstrates its novel therapeutic role in contemporary medicine. This article summarizes the recent status of PGD and discusses the current limitations and future perspectives associated with PGD techniques . Key Words: PGD, ART,FISH
Mir Davood Omrani, Javad Karimzad Hagh, Wolfrom Klein, Jurgen Gebauer,
Volume 6, Issue 3 (7-2008)
Abstract
Background: Cytogenetic analysis, Y-chromosome microdeletion screening, FISH techniques and other genetic methods have helped in finding the causes of infertility in azoospermic or severe oligoazoospermic cases in the last decade.
Objective: In the present study, we characterized an abnormal Y-chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. Materials and Methods: Chromosome analysis, using G, Q and C banding techniques and FISH analyses with several different DNA probes specific for Y and X chromosome sequences [XY centromeric α-satellite, Y non-α-satellite III, LSI-probes of the Y chromosome, WCP of Chromosome Y, SRY gene, subtelomeric Xp and Yp, which cover the SHOX (short stature-homeobox containing) gene, and subtelomeric Xq and Yq probes] were performed. A total of 20 sequence tagged sites were analyzed using primer sets specific for the Y-chromosome microdeletion loci. The primers were chosen to cover AZFa, AZFb, and AZFc regions as well as the SRY gene.
Results: Chromosome analysis revealed a gonosomal mosaicism of monosomy X (51%) and a pseudodicentric Y (49%) chromosome: mos 45, X/46,X psu dic (Y) (qter→p11.32 :: p11.2→qter). Molecular genetic studies did not show deletions in the AZFabc regions, but a deletion was found in the short arms of the dicentric Y chromosome. One of the SRY genes was also missing.
Conclusion: The azoospermia in this patient could be explained by either the presence of an abnormal Y-chromosome that cannot form a sex vesicle (which appears to be necessary for the completion of meiosis process and the formation of sperm), or the presence of the 45, X cell line.
Soghra Bahmanpour, Mohammad Reza Namavar, Tahereh Talaei, Zohreh Mazaheri, Ahmad Monabati,
Volume 7, Issue 3 (7-2009)
Abstract
Background: Some evidences showed that the secretion of uterine tube vagina and follicular fluid (FF) affects X and Y-chromosome populations. Sperm selection with X or Y chromosome can added to oocyte for gender desired. The isolation of X Y sperm have done and all efforts in this field are done to make culture media similar to in vivo condition. The objective of this study was to find if the FF can influence the ratio of X or Y chromosomes therefore we added human FF to culture media to separate X and Y sperms.
Materials and Methods: Normal semen sample from 36 healthy men were selected. Then the samples were divided into control and experimental groups: control group sperms have been incubated with conventional culture media (Ham,s F-10) and experimental group with conventional culture media + 10% human FF. For sperm isolation swim up technique was used. After 24 hours of incubation slides smear were prepared. Then we used the Fluorescent in Situ Hybridization (FISH) method to evaluate the effect of follicular fluid on the population ratio of X and Y containing sperms.
Results: Although the incubation of sperm in FF and Ham,s F-10 increased Y sperm (59.44 % in control and 61.42% in experimental groups) in comparison with X sperm (40.56% in control and 38.5 in experimental groups) significantly (p<0.05), but the Y (or X) bearing sperm did not significantly change in experimental group in comparison with Y (or X) bearing sperm in control group.
Conclusion: This study showed that using the swim up method for collecting sperms and adding FF to culture media can improve some sperm parameters, but did not has significant effects on population of X and Y sperm.
Neveen Ashaat, Ahmed Husseiny,
Volume 10, Issue 1 (7-2012)
Abstract
Background: Missed abortion (Silent miscarriage) is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation) is cytogenetic abnormalities.
Objective: To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7) and missed abortion among at least two generations.
Materials and Methods: After exclusion of direct causes of missed abortion, this study included 60 women (the study group) who had first trimestric missed abortion and 30 healthy women who did not suffer from any diseases during their pregnancy and had apparently normal outcome (the control group). All cases were diagnosed; the blood and tissue samples were collected from the mothers and abortuses from the Department of Obstetrics and Gynecology, Maternity Hospital, Ain Shams University. Cytogenetic analyses were performed by using conventional technique and G/T banding techniques and Fluorescence In Situ Hybridization (FISH) analysis with a whole chromosome 7 painting probe (WCP7) and a 7q subterminal probe (7q36, qter), prepared by chromosome micro dissection technique was used for confirming the specific chromosomal abnormality.
Results: Chromosomal analysis by G-banding technique was carried out in all families through three generations including the abortuses. We found highly statistical significant difference between maternal and abortal abnormal karyotype (p?0.005), where abnormal maternal karyotype was detected in 20% cases, 8.33% of them had insertional translocation between chromosomes 1 and 7 (46, XX, ins. (1; 7) (p32; q32.35). This insertion has appeared in two families and among two generations, and in one family among three generations.
Conclusion: Chromosome 7 insertional translocation is a possible autosomal dominant inherited trait and may cause missed abortion.
Mohammadreza Dehghani, Elena Rossi, Annalisa Vetro, Gianni Russo, Zahra Hashemian, Orsetta Zuffardi,
Volume 12, Issue 5 (6-2014)
Abstract
Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females.
Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated.
Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity.
