Novel biallelic mutations in PADI6 in patients with early embryonic arrest.

Peptidyl arginine deiminase, type VI (PADI6) is a member of the subcortical maternal complex (SCMC), which plays vital roles in mammalian embryogenesis. Most mutations in SCMC members have been reported to cause human embryonic arrest, and a total of 15 mutations in PADI6 have been shown to be responsible for early embryonic arrest according to previous studies. However, the genetic factors behind this phenotype remain to be understood in further detail.

[Analysis of chromosomal mosaicism in good quality cleavage embryos].

Objective: To apply single cell sequencing based on multiple annealing and looping amplification cycles (MALBAC) for the determination of the rate and type of mosaicisms of high-quality embryos at cleavage stage.

Methods: After thawing and removing of zona pellucida by enzymatic digestion, blastomeres were collected the high-quality embryos donated by couples whom had given birth to healthy offspring by intracytoplasmic sperm injection and embryo transfer. The whole genome of single cell was amplified and subjected to next generation sequencing.

Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos.

Purpose: To explore the whole-chromosome status, origins, and mechanisms of chromosomal abnormalities in good-quality cleavage embryos using multiple annealing and looping-based amplification cycle (MALBAC) sequencing.

Methods: The embryos studied came from7 patients (maternal aged 26-35) who had healthy birth from the same IVF cycles. These 21 frozen day 3 good-quality embryos were thawed and disaggregated into individual blastomere.

[Clinical and genetic features of 45,X maleness: A case report and review of the literature].

Objective: To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.

Methods: Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.

Results: GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11).

A newly discovered mutation in PICK1 in a human with globozoospermia.

Globozoospermia is a human infertility syndrome caused by spermatogenesis defects (OMIM 102530). Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia.

[Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].

Objective: To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia, oligospermia and asthenospermia.

Methods: Genomic DNA was extracted from the peripheral blood samples of 325 patients with idiopathic azoospermia (n = 11), oligozoospermia (n = 196) or asthenospermia (n = 118) and 100 fertile male controls. KLHL-10 mutations were detected for all the DNA specimens by PCR, DHPLC and sequencing techniques.

Glycerol-3-phosphate acyltransferase 4 gene is involved in mouse spermatogenesis.

Glycerol-3-phosphate acyltransferase (GPAT) catalyzes the first committed step of de novo triacylglycerol synthesis by converting glycerol-3-phosphate to lysophosphatidic acid (LPA). LPA is a mitogen that mediates multiple cellular processes including cell proliferation. Four GPAT isoforms have been cloned to date.