Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring

Abstract

Rationale: This study aimed to report 1 family case with novel Y chromosome structural variations by an established next-generation sequencing (NGS) method using unique STSs. Patient concerns: The case studied was from a family with a father and son (the proband). G-band staining was used for karyotype analysis. Y chromosome microdeletions were detected by sequence-tagged site (STS)-PCR analysis and a new NGS screening strategy. Diagnoses: Semen analysis showed that the proband was azoospermic. The patient had an abnormal karyotype (45,X[48%]/46,XY[52%]). His father exhibited a normal karyotype. STS-PCR analysis showed that the proband had a deletion of the AZFb+c region, and his father had no deletion of STS markers examined. The sequencing method revealed that the patient had DNA sequence deletions from nt 20099846 to nt 28365090 (8.3 Mb), including the region from yel4 to the Yq terminal, and his father exhibited a deletion of b1/b3 and duplication of gr/gr. Interventions: The proband was advised to undergo genetic counseling, and consider the use of sperm from a sperm bank or adoption to become a father. Outcomes: The proband was azoospermic. AZFc partial deletions may produce a potential risk for large AZFb+c deletions or abnormal karyotypes causing spermatogenic failure in men. Lessons: The NGS method can be considered a clinical diagnostic tool to detect Y chromosome microdeletions. The partial AZFc deletions and/or duplications can be a risk of extensive deletions in offspring.

Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication

“…The other possible scenario includes two independent and subsequent events (Supplementary Figure 2). The first event is an interchromatidic b2/b4 duplication, which has been frequently reported in different Y chromosome lineages (Repping et al, 2003;Teitz et al, 2018;Liu et al, 2021), while the second event is an intrachromatidic or interchromatidic b1/b3 deletion, which has also been previously reported in several Y haplogroups (Repping et al, 2003;Kuroda et al, 2018;Liu et al, 2020Liu et al, , 2021. A different succession of events is not able to explain the observed copy number variation.…”

A new peptide alleviates cerebral ischemia-reperfusion injury by restricting oxidative stress and endoplasmic reticulum stress

“…However, the occurrence of I/R can lead to a rapid increase in ROS, which overwhelms the antioxidant system and eventually results in oxidative stress (Bakeeva et al, 2008). Antioxidant enzymes (such as SOD and CAT) are important for cells to resist ROS and are encoded by specific genes and regulated by Nrf2 (Liu, Zhang, Gao & Wang, 2020). When Nrf2 is activated, it is transported from the cytoplasm to nucleus, where it activates antioxidant enzymes through antioxidant response elements (ARE) to protect tissues from oxidative stress damage.…”

A case report of Asymptomatic hyperCKemia and literature review

“…The increased level of CK after exercise is associated with different exercise styles, intensities and training levels, and prolonged intense exercise leads to damage and destruction of myocytes, resulting in an abnormal increase in CK [6] . In some cases, repeated intramuscular injections can also cause hypercalcemia, which is restored or close to normal after conventional treatment, and this is a short-term increase in CK [7] , so clinically, when receiving patients with elevated CK without obvious symptoms, a detailed medical history should be taken to exclude related diseases.…”