A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination.

Individuals with 46,XX/XY chimerism can display a wide range of characteristics, varying from hermaphroditism to complete male or female, and can display sex chromosome chimerism in multiple tissues, including the gonads. The gonadal tissues of females contain both granulosa and germ cells. However, the specific sex chromosome composition of the granulosa and germ cells in 46,XX/XY chimeric female is currently unknown.

Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.

Background: Mosaicism poses challenges for genetic counseling and preimplantation genetic testing for monogenic disorders (PGT-M). NGS-based PGT-M has been extensively used to prevent the transmission of monogenic defects, but it has not been evaluated in the application of PGT-M resulting from mosaicism.

Methods: Four women suspected of mosaicism were confirmed by ultra-deep sequencing.

Neonatal outcomes of live births after blastocyst biopsy in preimplantation genetic testing cycles: a follow-up of 1,721 children.

Objective: To investigate whether blastocyst biopsy in preimplantation genetic testing (PGT) increases the risk of adverse neonatal outcomes.

Design: Retrospective cohort study.

Setting: University-affiliated center.

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

Background: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene.

[Proteomic identification of necrozoospermia-related proteins].

Objective: To compare the proteomic differences between normal and necrozoospermic human spermatozoa.

Methods: We isolated proteins from 30 ejaculates of 10 healthy donors and 3 specimens of a necrozoospermia patient by two-dimensional gel electrophoresis (2-DE), analyzed their 2-DE maps and identified some differentially expressed proteins by mass spectrometry.

Results: A total of (905 +/- 57) and (792 +/- 28) proteins were isolated from the spermatozoal maps of the normal and necrozoospermic men, respectively, and 178 found to be differentially expressed in that of the necrozoospermia patient.

Establishment of a high-resolution 2-D reference map of human spermatozoal proteins from 12 fertile sperm-bank donors.

Aim: To extend the analysis of the proteome of human spermatozoa and establish a 2-D gel electrophoresis (2-DE) reference map of human spermatozoal proteins in a pH range of 3.5-9.0.

Newly expressed proteins of mouse embryonic fibroblasts irradiated to be inactive.

It has been found that post-radiation mouse embryonic fibroblasts can well maintain the pluripotency in human embryonic stem cells. However, the molecular mechanism remains unclear. In the present study, the new protein expression profile of post-radiation mouse embryonic fibroblasts was analyzed by immobilized pH gradient 2-dimensional polyacrylamide gel electrophoresis.

[Diagnosing achondroplasia by single cell nested-PCR].

Objective: To research on the reliability of diagnosing achondroplasia (ACH) on single cell level and to provide a basis for preimplantation genetic diagnosis(PGD).

Methods: The high-frequency mutation region G380R of fibroblast growth factor receptor 3(FGFR3) gene was amplified by nested-PCR with single lymphocyte and single blastomere. The products of PCR were digested by restriction enzyme Bfm I, then the digested products were detected by 10% polyacrylamida gel electrophoresis(PAGE).