scholarly journals Pericentric inversion in chromosome 1 and male infertility

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 343-348
Author(s):  
Ranwei Li ◽  
Haitao Fan ◽  
Qiushuang Zhang ◽  
Xiao Yang ◽  
Peng Zhan ◽  
...  

AbstractPericentric inversion in chromosome 1 was thought to cause male infertility through spermatogenic impairment, regardless of the breakpoint position. However, carriers of pericentric inversion in chromosome 1 have been reported with normal fertility and familial transmission. Here, we report two cases of pericentric inversion in chromosome 1. One case was detected in utero via amniocentesis, and the other case was detected after the wife of the carrier experienced two spontaneous abortions within 5 years of marriage. Here, the effect of the breakpoint position of the inversion in chromosome 1 on male infertility is examined and compared with the published cases. The association between the breakpoint of pericentric inversion in chromosome 1 and spermatogenesis is also discussed. Overall, the results suggest that the breakpoint position deserves attention from physicians in genetic counseling as inversion carriers can produce offspring.

2017 ◽  
Vol 43 (4) ◽  
pp. 560-562 ◽  
Author(s):  
Ozgur Balasar ◽  
Ayse Gul Zamani ◽  
Mehmet Balasar ◽  
Hasan Acar

1985 ◽  
Vol 5 (4) ◽  
pp. 831-838
Author(s):  
R C Parker ◽  
G Mardon ◽  
R V Lebo ◽  
H E Varmus ◽  
J M Bishop

The oncogene (v-src) of Rous sarcoma virus apparently arose by transduction of the chicken gene known as c-src(chicken). We isolated DNA fragments representative of two src-related loci from recombinant DNA bacteriophage libraries of the human genome. One of these loci, c-src1(human), appeared to direct the synthesis of a 5-kilobase polyadenylated RNA that presumably encodes pp60c-src(human). Probes specific for the other locus, c-src2(human), did not hybridize to polyadenylated RNA prepared from a variety of human cell lines. Partial nucleotide sequence determinations of the loci demonstrated that c-src1(human) is highly related to chicken c-src and that c-src2(human) is slightly more divergent. The sequences imply that the final two coding exons of each human locus are identical in length to those of chicken c-src and that the location of an amber stop codon is unchanged in all three loci. c-src1(human) has been mapped to chromosome 20, and the second locus is located on chromosome 1. We conclude that c-src1(human) is the analog of c-src(chicken) and that the duplicated locus, c-src2(human), may also be expressed.


2017 ◽  
Vol 06 (02) ◽  
pp. 122-125
Author(s):  
Saurabh Verma ◽  
M. Sridhar ◽  
S. Shashivadhanan ◽  
Manish Garg

AbstractIt is a rare and underdiagnosed entity. The adagium “one only sees what one knows” is certainly true in cases of Blake's pouch cyst, as all types of posterior fossa cysts and cyst-like malformations may present nearly identical on initial imaging studies. Only one case of Blake's pouch cyst has been reported from this country, except for a case in utero, in which a diagnosis of Blake's pouch cyst was made on prenatal ultrasound and later confirmed by MRI. In this report we describe a case of Blake's pouch cyst in a 9-month-old male child along with the principles of diagnosis of Blake's pouch cyst, in combination with literature review. Differentiating Blake's pouch cyst from other posterior fossa cysts and cyst-like malformations and recognizing the accompanying hydrocephalus that are essentially noncommunicating have important implications not only on clinical management but also on genetic counseling, which is unnecessary in case of Blake's pouch cyst.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
N Kilic ◽  
T İrez ◽  
N Dayiolu

Abstract Study question Is CatSper4 expression in sperm related to functional parameters and does cryopreservation affect CatSper4 expression? Summary answer In this study, it was aimed to investigate whether CatSper4 has a relationship with sperm parameters and is CatSper 4 affected by cryopreservation. What is known already CatSper membrane channels, known as cation channels, are thought to play an important role in the insufficiency of sperm physiology, acrosome reaction, and chemotaxis movement. There is no study on cation channel distribution in an infertile male patient. In addition, studies conducted in recent years have shown that cryopreservation techniques have negative effects on sperm DNA, but there is no analysis in the literature regarding the effects of cryopreservation on CatSper4 ion channel proteins. Study design, size, duration Samples of the patients who applied to the Andrology laboratory in the Medical Park Hospital IVF unit between March 1 and June 1 in 2020 were included in the study. Also, patients with no family history of no genetic anomalies , no varicocele and azoospermia were included.The study were divided into 4 groups in accordance with the male infertility guideline of the European Association of Urology as normozoospermic (control group), the asthenoteratozoospermia, teratozoospermia, and oligoastenotheratozoospermia. Participants/materials, setting, methods In this prospective study, semen analysis, DNA fragmentation, and CatSper 4 by IHC of control group patients with normospermia (n = 40) and oligospermia(n = 50), asthenospermia(n = 40), and teratozoospermia(n = 38) patients were compared and differences resulting from cryopreservation were evaluated by Wilcoxon signed Ranks Test. Main results and the role of chance It was observed that CatSper4 protein positivity was localized in the middle part of the sperm and it was statistically higher in the normozoospermic patient group compared to the other groups (p = 0,01). When the positivity values of CatSper4 protein before and after freezing were compared in the groups, it was seen that the values decreased (p = 0,001,p=0,01). Sperm DNA fragmentation was found to be lowest in normospermia and statistically significantly higher in other groups. Cryopreservation application increased DNA fragmentation in all groups (p < 0,001 , p < 0,01). Limitations, reasons for caution Unfortunately, embryo screening in patients with low CatSper4 expression is not available in the present study. Soon we plan to screen a broader clinical pregnancy series and present the IVF results associated with CatSper4. Wider implications of the findings: Our study indicated that, CatSper4 expression is quite high in normospermia when compared with the other groups, particularly oligoasthenoteratozoospermia and asthenoteratozoospermia. There are almost no studies on this subject in the literature, and we think that it should be studied in larger patient groups and in unexplained infertile cases. Trial registration number Not applicable


2000 ◽  
Vol 118 (1) ◽  
pp. 62-64 ◽  
Author(s):  
Şükrü Palanduz ◽  
Kivanç Çefle ◽  
Melih Aktan ◽  
Gülçin Tutkan ◽  
Şükrü Öztürk ◽  
...  

1978 ◽  
Vol 45 (2) ◽  
pp. 123-125 ◽  
Author(s):  
Patricia N. Howard-Peebles

1986 ◽  
Vol 72 (2) ◽  
pp. 148-152 ◽  
Author(s):  
O. Gabriel-Robez ◽  
C. Ratomponirina ◽  
Y. Rumpler ◽  
B. Le Marec ◽  
J. M. Luciani ◽  
...  

1974 ◽  
Vol 16 (2) ◽  
pp. 305-315 ◽  
Author(s):  
Frank J. O'Neill ◽  
Charles P. Miles

Analysis of centromeric heterochromatin in five human lymphoblastoid cell lines is described utilizing the C banding technique. Two lines, LK 60 and NC 37 showed a polymorphism for the size of the band on chromosome 1. LK 60 also showed accentuation or stretching of the secondary constriction on No. 1 and in almost all cells studied the affected homolog was also the one with the large C band. Another line SKL-1, also showed an accentuated constriction on chromosome 1 but did not have a detectable polymorphism. NC 37 did not show a constriction. In LK 60 the stretching of the constriction always appeared within the boundaries of the constitutive heterochromatin, regardless of the degree of stretching.SKL-1 and RPMI 6410 showed marker chromosomes with double C bands. One such chromosome appeared in SKL-1 and the bands were relatively widely spaced. However, analysis of this chromosome with standard staining procedures showed that one band was only rarely associated with a constriction while the other band, nearest the telomere, always showed a constriction. In RPMI 6410 two such markers were apparent. In one, the bands were well spaced, to allow an analysis for association with constrictions. In this case one band was always associated with a constriction while the other band showed a constriction in most of the cells. The possibility that these chromosomes are dicentric is discussed.


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