Prenatal diagnosis for a fetus with 5p deletion syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.@*METHODS@#Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation.@*CONCLUSION@#CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.

Genetic analysis and counseling for two fetal cases with large de novo Yq deletions / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the deletion region for two fetal cases with large Yq deletions in order to provide genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>For both cases, amniotic fluid samples were cultured and analyzed with G banding and fluorescence in situ hybridization (FISH). Multiplex polymerase chain reaction was also carried out to amplify 15 sequence tagged sites (STS) of azoospermia factor (AZF) on the Y chromosome.</p><p><b>RESULTS</b>For both samples, the karyotypes were determined as 46,X,del(Y)(pter→q11:). No heterochromatin was found in C band. The karyotypes of their fathers were 46,XY, and heterochromatin was found in C band. STS analyses suggested that only sY82, sY84 and sY86 in AZFa were amplifiable while the other 12 STS were negative in amniotic fluid for the first case, which indicated deletions of AZFb, AZFd and AZFc. No AZF deletion was found in its father. For the second case, all 15 STS were amplifiable in the amniotic fluid, suggesting no AZF deletion. No AZF deletion was found in its father too.</p><p><b>CONCLUSION</b>Conventional karyotyping combined with FISH and molecular genetics techniques can enable characterization of AZF microdeletions and facilitate genetic counseling and prenatal diagnosis.</p>

Expression of goat follicle-stimulating hormone analogous gene in Pichia pastoris / 生物工程学报

In order to obtain the long-acting FSH preparation, the single strand long-acting analogous gene FSHbeta-CTP-alpha was successfully constructed by the C-terminal peptide(CTP) of carboxyl-terminal region of human chorionic gonadotropin with the goat FSHalpha-subunit and beta-subunit genes, then it was inserted into pPIC9K vector. The recombinant plasmid pPIC9K FSHbeta-CTP-alpha was transformed into Pichia pastoris GS115 by electroporation. The multi-copy inserts His+Mut+ were gained by the screening of phenotype and hyper-resistance to G418. After methanol induction, the supernatant was analysised by SDS-Polyacrylamide Gen Electrophoresis and Western blot. The results show that the transformants of FSHbeta-CTP-alpha could express the objective protein successfully and the molecular weight is about 29 kD. The concentration of supernatant was detected by Radio-immunoassay and the average expression of multi-inserts is 91.849 mIU/mL and the low-inserts is 37.419 mIU/mL. The expression of multi-inserts is higher than the low-inserts significantly. This research lay the foundation for studying the structure of FSH and the production of long-acting FSH preparation.