Grandmother-grandchild physiological synchrony in Chinese three-generation families: Links with child emotion regulation.

The current study examined the characteristics of physiological synchrony between grandmothers and grandchildren in Chinese three-generation families, and the associations between physiological synchrony and child emotion regulation. The participants included 92 children (age 8-10-year old) and their grandmothers. Respiratory sinus arrhythmia (RSA) was collected from both grandmothers and their grandchildren throughout a collaborative drawing task and a conflict discussion task. Child emotion regulation was measured using the Children's Emotional Management Scale. We found no evidence for an overall pattern of concordant or discordant synchrony within dyads. Instead, there was great variability in patterns of synchrony across dyads. During the collaborative drawing task, concordance in grandmother's RSA and grandchildren's subsequent RSA was linked with better emotion regulation. During the conflict discussion, concordance in grandmother's RSA and grandchildren's simultaneous RSA was linked with poorer emotion regulation. These results suggest that grandmother-grandchild synchrony in different directions, time lags, and contexts has different influences on children's emotion regulation. The findings of this study highlight the importance of contextual physiological co-regulation between Chinese children and their grandmothers for children's social-emotional development.

circ-Amotl1 in extracellular vesicles derived from ADSCs improves wound healing by upregulating SPARC translation.

Aim: This study aims to explore the mechanism of circ- AMOT-like protein 1 (Amotl1) in extracellular vesicles (Evs) derived from adipose-derived stromal cells (ADSCs) regulating SPARC translation in wound healing process. Methods: The morphology, wound healing rate of the wounds and Ki67 positive rate in mouse wound healing models were assessed by H&E staining and immunohistochemistry (IHC). The binding of IGF2BP2 and SPARC was verified by RNA pull-down. Adipose-derived stromal cells (ADSCs) were isolated and verified. The Evs from ADSCs (ADSC-Evs) were analyzed. Results: Overexpression of SPARC can promote the wound healing process in mouse models. IGF2BP2 can elevate SPARC expression to promote the proliferation and migration of HSFs. circ-Amotl1 in ADSC-Evs can increase SPARC expression by binding IGF2BP2 to promote the proliferation and migration of HSFs. Conclusion: ADSC-Evs derived circ-Amotl1 can bind IGF2BP2 to increase SPARC expression and further promote wound healing process.

The pan-cancer multi-omics landscape of key genes of sialylation combined with RNA-sequencing validation.

BACKGROUND: Sialylation, the process of salivary acid glycan synthesis, plays a pivotal function in tumor growth, immune escape, tumor metastasis, and resistance to drugs. However, the association between sialylation and prognosis, tumor microenvironment (TME), and treatment response in a variety of cancers remains unclear. METHODS: A comprehensive survey of the expression profile, prognostic value, and genetic and epigenetic alterations of sialylation-related genes was performed in pan-cancer. Subsequently, the single-sample gene set enrichment analysis (ssGSEA) algorithm was used to compute sialylation pathway scores in pan-cancer. Correlations of sialylation pathway scores with clinical features, prognosis, and TME were evaluated using multiple algorithms. Finally, the efficacy of the sialylation pathway score in determining the effect of immunotherapy was evaluated. The expression of sialylation-related genes were verified by RNA-sequencing. RESULTS: Significant differences were observed in sialylation-related genes expression between tumors and adjacent normal tissues for most cancer types. Sialylation pathway scores differed according to the type of tumor, where the poor prognosis was correlated with high sialylation pathway scores in uveal melanoma (UVM) and pancreatic adenocarcinoma (PAAD). In addition, sialylation pathway scores were positively associated with the ImmuneScore, StromalScore and immune-related pathways. Moreover, the level of immune cells infiltration was higher in tumors with higher sialylation pathway scores. Finally, patients with high sialylation pathway scores were more sensitive to immunotherapy. CONCLUSION: Sialylation-related genes are essential in pan-cancer. The sialylation pathway score may be used as a biomarker in oncology patients.

The Double-Edged Impact of the COVID-19 Pandemic on Chinese Family Relationships.

To comprehensively understand the Chinese family relationships (i.e., marital relationship, parent-child relationship, sibling relationship, and grandparent-grandchild relationship) during the COVID-19 pandemic, this study investigated the changes of family relationships and the individual differences related to knowledge of the COVID-19, personality traits (i.e., neuroticism and optimism), and emotional characteristics (i.e., emotion regulation and negative emotional reactions). From March 1 to April 5, 2020, 8821 participants were involved, including 3995 teenagers, 1146 unmarried young adults, 3571 married adults, and 109 grandparents. Results revealed a double-edged pattern that people experienced both positive changes and negative changes during the pandemic. Teenagers reported significant negative changes in the relationships with their parents. Peoples' knowledge of the COVID-19, neuroticism, optimism, emotion regulation, and negative emotional reactions were in varying extents to which accounted for the individual differences in the changes of family relationships. These findings help recognize the overall Chinese family relationships during the hard period.

The effect of short-form video addiction on undergraduates' academic procrastination: a moderated mediation model.

Background: Short-form videos have become one of the most popular ways for people to entertain and relax. However, the intense interest in short-form videos has given rise to short-video addiction, which poses risks to both physical and mental health of individuals. Undergraduates are one of the important users for short-form videos, and the influence of short-form video addiction calls for more attention. This study aimed to investigate the association between short-form video addiction and academic procrastination among undergraduates, exploring the role of executive functions (i.e., attentional control) and personality traits (i.e., boredom proneness) in the association. Methods: Using stratified random cluster sampling method, the data of 1,047 college students were used in the study. All variables were measured by empirical instruments, and all instruments were highly reliable. Mediation and moderation analysis was conducted using Model 4 and 7 in PROCESS macro powered by SPSS. Results: Results revealed that short-form video addiction not only directly impacted academic procrastination but also placed indirect effect on academic procrastination through attentional control. Furthermore, the mediating effect of attentional control was contingent upon individuals' boredom proneness. Higher levels of boredom proneness weakened the impact of short-form video addiction on attentional control. Conclusion: The findings expand our knowledge of the negative effects of short-form video addiction and the underlying mechanisms, providing implications for mitigating undergraduates' academic procrastination.

Different Trajectories of Panic and the Associated Factors among Unmarried Chinese during the COVID-19 Pandemic.

BACKGROUND: A large number of the population experienced panic during the pandemic of the coronavirus disease 2019 (COVID-19) in China. The current study explored the trajectory of panic and its associated factors to develop promising strategies for controlling the global spread of COVID-19 and improving the mental health emergency management. METHODS: A total of 812 unmarried adults (aged from 18 to 42 years, M = 23.3, SD = 3.45) from all over China participated online in our investigation. A Growth Mixture Model (GMM) was developed and analysed. RESULTS: Three classes of trajectories for panic were identified: the "continuous decline group (CDG)", the "continuous low group (CLG)," and the "continuous high group (CHG)". With reference to the CDG, people in the CHG were more sensitive to social factors. With reference to the CDG, people in the CLG were more likely to possess some of the following traits: being men, in Hubei Province (center of the pandemic), with a lower income, and less sensitive towards social factors and individual factors. With reference to the CLG, people in the CHG were more likely to be women, located outside of Hubei Province, and more sensitive to social factors, family factors, and individual factors. CONCLUSION: Social factors, family factors, and individual factors predicted the different trajectories of panic.

Genomic analysis of blood samples with serologic ABO discrepancy identifies 12 novel alleles in a Chinese Han population.

OBJECTIVES: This study aimed at identifying new ABO alleles from155 unrelated blood samples with potential ABO discrepancy in a Chinese Han population of 835 144 donors. BACKGROUND: Serological strategies and genotyping are crucial for the precise determination of ABO discrepancy. METHODS: Their ABO phenotypes and plasma glycosyltransferase activity were determined by standard forward and reverse typing and dilution tests. The genomic DNA of the ABO gene was amplified by polymerase chain reaction and sequenced. The frequency of ABO subgroup alleles associated with ABO discrepancy was analysed. RESULTS: Serological analysis indicated that 53, 96 and 6 samples with ABO discrepancy were identified in the A, B and O subgroups, respectively. Genetic analysis revealed 12 novel alleles among the 46 associated with serologic ABO discrepancy. The majority of novel alleles was obtained from point mutations or single base insertion in Exons 6 to 7 of the ABO gene. The most frequent alleles were ABO*cisAB.01 (14/53, 26.42%) and ABO*A2.05 (7/53, 13.2%) in the A subgroup and ABO*BA.02 (34/96, 35.42%) and ABO*BEL.11 (15/96, 15.62%) in the B subgroup. Samples with the same ABO subgroup allele displayed different phenotypes, such as ABO*AX.13, ABO*BW.03, ABO*BW.12, ABO*BW.15, ABO*BEL.03, ABO*BEL.10 and ABO*BEL.11. CONCLUSION: This study identified 12 novel alleles among the 46 associated with serologic ABO discrepancies. ABO genotyping is needed for the accurate evaluation of blood phenotype to improve the safety of blood transfusion.

MicroRNA let-7a regulates angiogenesis by targeting TGFBR3 mRNA.

Angiogenesis has a great impact on human health, owing to its participation in development, wound healing and the pathogenesis of several diseases. It has been reported that let-7a is a tumour suppressor, but whether it plays a role in angiogenesis is unclear. Here we showed that let-7a, a microRNA conserved in vertebrates, regulated angiogenesis by concomitantly down-regulating TGFBR3. Overexpression of let-7a or knockdown of TGFBR3 in cell culture inhibited the tube formation and reduced migration rate. Moreover, xenograft experiments showed that overexpression of let-7a or knockdown of TGFBR3 had smaller tumour size. Downstream genes, such as VEGFC and MMP9, were also down-regulated in let-7a overexpression or TGFBR3 knockdown groups. Therefore, our results revealed a novel mechanism that let-7a regulate angiogenesis through post-transcriptional regulation of TGFBR3.

Prepubertal testicular tumors in China: a 10-year experience with 67 cases.

AIM: Prepubertal testicular tumors are rare in children. We aim to present clinical and histological features of prepubertal testicular tumors through the analysis of the long-term experiences of a single medical center of China. MATERIALS AND METHODS: A total of 67 children (≤ 14 years) treated for testicular tumor at our institution from 2005 to 2015 were retrospectively reviewed. Data relating the clinical characteristics, histopathology findings, serum tumor markers, treatment method, and outcome were collected. RESULTS: The patients' median age at diagnosis was 18 months (range 3-168 months), and 49 cases (73.1%) were diagnosed at age younger than 3 years. The most common clinical presentation was a painless scrotal mass or swelling. Regarding histology, 32 (47.8%) were teratomas and only one of these tumors presents immature teratomas, 20 (29.9%) were yolk sac tumors, 9 (13.4%) were epidermoid cyst, 1 (1.5%) was a Leydig cell tumor, 1 (1.5%) was a mixed malignant germ cell tumor, and 4 (8.3%) were paratesticular tumors. For germ cell tumors, the mean preoperative serum α-fetoprotein (AFP) level was significantly higher in patients with yolk sac tumor than in those with teratomas (2,078 ng/mL vs 5.7 ng/mL). Of all these patients, 37 (55.2%) were treated with radical inguinal orchiectomy and testis-sparing surgery was planned and achieved in 30 (44.8%). Surveillance was performed in 60 patients. None of the patients developed recurrence or testicular atrophy after appropriate treatment. CONCLUSIONS: The majority of our cases were benign, with the most common histopathological subtype being teratoma. A testis-sparing procedure should be performed in children with a palpable testicular mass and negative tumor markers. This study shows a better outlook for prepuberty patient with testicular tumors than their adult counterparts.

ERK5 plays an essential role in gestational beta-cell proliferation.

OBJECTIVES: Restoring a functional beta-cell mass is a fundamental goal in treating diabetes. A complex signalling pathway network coordinates the regulation of beta-cell proliferation, although a role for ERK5 in this network has not been reported. This question was addressed in this study. MATERIALS AND METHODS: We studied the activation of extracellular-signal-regulated kinase 5 (ERK5) in pregnant mice, a well-known mouse model of increased beta-cell proliferation. A specific inhibitor of ERK5 activation, BIX02189, was intraperitoneally injected into the pregnant mice to suppress ERK5 signalling. Beta-cell proliferation was determined by quantification of Ki-67+ beta cells. Beta-cell apoptosis was determined by TUNEL assay. The extent of beta-cell proliferation was determined by beta-cell mass. The alteration of ERK5 activation and CyclinD1 levels in purified mouse islets was examined by Western blotting. RESULTS: Extracellular-signal-regulated kinase 5 phosphorylation, which represents ERK5 activation, was significantly upregulated in islets from pregnant mice. Suppression of ERK5 activation by BIX02189 in pregnant mice significantly reduced beta-cell proliferation, without affecting beta-cell apoptosis, resulting in increases in random blood glucose levels and impairment of glucose response of the mice. ERK5 seemed to activate CyclinD1 to promote gestational beta-cell proliferation. CONCLUSIONS: Extracellular-signal-regulated kinase 5 plays an essential role in the gestational augmentation of beta-cell proliferation. ERK5 may be a promising target for increasing beta-cell mass in diabetes patients.

Gonadal germ cell tumors in children: A retrospective review of a 10-year single-center experience.

BACKGROUND: The true incidence of gonadal germ cell tumors (GCTs) in children is unknown. Few studies have been published concerning about pediatric gonadal GCTs. The aim of this study is to review and analyze clinical data on the diagnosis and management of gonadal GCTs in children. METHODS: Between 2005 and 2015, 127 pediatric patients (<14 years old) with gonadal GCTs admitted to our institute were reviewed. Clinical features, imaging and laboratory studies, surgical approaches, as well as pathological diagnoses were recorded. RESULTS: The series comprised 53 males with testicular GCTs and 74 females with ovarian GCTs. Their median age was 5.8 years old. Palpable mass was the main clinical manifestation of testicular GCTs, while abdominal pain and abdominal distention were the most frequent presenting symptoms of ovarian GCTs. Both computed tomography and magnetic resonance imaging showed a high diagnostic yield. AFP levels were elevated in most malignant GCTs, markedly elevated in yolk sac tumors. All patients were treated surgically. Mature teratoma was the most common type of benign GCTs, while yolk sac tumor was the most common type of malignant GCTs. CONCLUSION: Gonadal GCTs in children have various of pathological types, as well as clinical manifestations. Imaging and laboratory data could be useful for differentiation of malignant from benign tumors. Final diagnosis depends on pathology. Surgical excision of the gonadal GCTs is the prior option.

Intestinal perforation secondary to ingested foreign bodies: a single-center experience with 38 cases.

OBJECTIVE: The aim of this study is to report our experience with patients with intestinal perforation secondary to ingested foreign bodies (FBs) who were treated surgically at our institution. METHODS: Between 2001 and 2015, a total of 38 pediatric patients with the diagnosis of intestinal perforation secondary to FBs were retrospectively reviewed. RESULTS: The series comprised 22 males and 16 females. The average age of the patients was 1.9 years. A definitive preoperative history of the ingestion of FBs was obtained for only eight patients. Crying and abdominal pain were the main clinical manifestations. Perforation repair was performed in 29 patients (76.3%), while enterostomy was utilized in five patients (13.2%) and enterectomy in four patients (10.5%). Five perforations occurred in the large intestine, and 33 perforations occurred in the small intestine with the most common site being the distal ileum. Of the 38 FBs recovered, 26 were food objects, while non-food objects were found in 12 patients. All patients recovered well, except one patient with an intestinal obstruction from adhesions that occurred approximately 1 month after discharge. CONCLUSIONS: Clinical performance of intestinal perforation secondary to FBs in children is atypical. Most perforations occur in the small intestine. Primary perforation repair is safe and effective, and better outcomes can be achieved.

Oral administration of propionic acid during lactation enhances the colonic barrier function.

BACKGROUND: Propionic acid is a three-carbon short chain fatty acid (SCFA) that has various effects on colonic functions. Although several studies have shown the effects of propionic acid on intestinal mucosal barrier function, studies of the promotion effect during pre-weaning are rare in the literature as far as we know. METHODS: Pre-weaning male Sprague-Dawley rats 7 days after birth were given an oral 0.2 mL/10 g of 200 mM propionic acid solution in the propionic acid group or normal saline solution in the control group by gavage twice a day for ten days. The proximal colonic contents were used for extraction and determination of propionic acid by gas chromatographic analysis; the transepithelial electrical resistance (TER) of colonic tissue was detected by an Ussing chamber; the alterations of ZO-1, Claudin-1, Claudin-8 and Occludin proteins were analyzed by Western blot and immunohistochemistry; and The activity of ERK and p38 MAPK was determined by the phosphorylation status of ERK1/2 and p38 with Western blot. RESULTS: Our results suggested a higher concentration (23.5 ± 1.9 mmol/kg) of propionic acid compared to the physiological concentration (18.1 ± 0.9 mmol/kg) in colonic contents after oral administration increased the value of TER and the expression of ZO-1, Claudin-1, Claudin-8 and Occludin compared to the control group. Furthermore, the expression levels of phosphorylated ERK1/2 and p38 MAPK were increased in propionic acid group. CONCLUSIONS: We concluded that continuous oral administration of propionic acid during lactation may increase its concentration in the proximal colon and promote epithelial barrier function of proximal colon by enhancing the expression of ZO-1, Claudin-8, Claudin-1 and Occludin via increases in the expression of ERK1/2 and p38 MAPK.

Clinical characteristics of adrenal tumors in children: a retrospective review of a 15-year single-center experience.

OBJECTIVE: Adrenal tumors are rare in children. The aim of this study is to review and analyze clinical data on the diagnosis and management of adrenal tumors in children. METHODS: Between 2001 and 2015, 48 pediatric patients (<14 years old) admitted to our institute with adrenal tumors were reviewed. Clinical features, imaging studies, surgical approaches, as well as pathological diagnoses were recorded. RESULTS: The series comprised 28 males and 20 females. Adrenomedullary tumors were 37, including 24 cases of neuroblastoma, 10 cases of ganglioneuroma, 2 cases of ganglioneuroblastoma, and 1 case of pheochromocytoma. Adrenocortical tumors were 10: 9 cases of cortical adenoma and 1 case of cortical cancer. The other one was hematoma. Fever, pain, and abdominal distention were the main clinical manifestations of adrenomedullary tumors, while Cushing syndrome was the most frequent presenting symptom of adrenocortical tumors. Both computed tomography and magnetic resonance imaging showed a high diagnostic yield. Some patients had an elevated hormone level. Open adrenalectomy was performed in 40 patients (83.3%), while a laparoscopic approach was employed in eight patients (16.7%). RESULTS: Adrenal tumors in children have various types,as well as clinical manifestations. Imaging and laboratory data could be useful for differentiation of malignant from benign tumor. Final diagnosis depends on pathology. Surgical excision of the adrenal tumors is the standard of care.

Transumbilical Single-Incision Laparoscopic Surgery in Children with Conventional Instruments: Our Early Experience.

OBJECTIVE: Laparoscopic surgery is the current accepted approach in most pediatric surgical centers. In an attempt to further minimize the surgical trauma and improve cosmetic outcome, new techniques with a single incision through the umbilicus have been proposed and we believe they will become the standard choices for pediatric surgery. This report describes our initial experience with transumbilical single-incision laparoscopic surgery (TSILS) in children with conventional instruments. MATERIALS AND METHODS: A retrospective review of 82 pediatric patients who underwent TSILS in children with conventional instruments from January 2011 to June 2015 was performed. The operations included 56 appendectomies, 9 cholecystectomies, and 17 spermatic vein ligations. RESULTS: The average age by procedure was 6.2 years for appendectomy (range of 3-14 years); 12.4 years for cholecystectomy (range of 10-14 years); and 12.8 years for spermatic vein ligation (range of 11-14 years). The average operative time was 32 minutes for appendectomy (range of 25-56 minutes); 54 minutes for cholecystectomy (range of 35-95 minutes); and 23 minutes for spermatic vein ligation (range of 17-41 minutes). The average length of staying in hospital was 3 days (range of 2-5 days). All of the operations in 82 cases were successful. None required conversion to open or conventional laparoscopic surgery. There was no obvious wound pain. In addition, there were no wound infections on umbilicus and any other intraoperative complications. There was no obvious scar at patients' umbilicus after postoperative follow-up for 2-4 weeks. CONCLUSIONS: TSILS is a safe and viable technique that may be used successfully in pediatric surgery. Additionally, excellent cosmetic results are obtained as evidenced by imperceptible umbilical scarring.

RNA-binding protein LIN28 is a sensitive marker of pediatric yolk sac tumors.

BACKGROUND: RNA-binding protein LIN28 is involved in maintaining the pluripotency of embryonic stem cells. It has been detected in different types of testicular and ovarian germ cell tumors (GCTs), but its status in pediatric YSTs (yolk sac tumors) is still unknown. The aim of this study was to determine the immunohistochemical profile of LIN28 in pediatric YSTs. METHODS AND RESULTS: Immunohistochemistry detection of LIN28 was performed in 22 cases of pediatric YSTs and 10 mature teratomas. The percentage of tumor cells stained was scored as 0, 1+ (1-30 % cells), 2+ (31-60 %), 3+ (61-90 %), and 4+ (>90 %). To compare its sensitive and specificity with alpha-fetoprotein (AFP), we also stained AFP in 22 cases of pediatric YSTs and 10 mature teratomas in children. LIN28 staining was high in all 22 pediatric yolk sac tumor (2+ in 1, 3+ in 1, and 4+ in 20), and weak staining of LIN28 was seen in 1 of 10 mature teratomas (1+), 9 of 10 mature teratomas were negative expression. However, the expression of AFP in pediatric YST was lower compared with Lin28 (- in 1, 1+ in 8, 2+ in 12, and 3+ in 1), and weak expression of AFP was seen in 2 of 10 mature teratomas (1+), 8 of 10 mature teratomas were negative. LIN28 had higher intensity expression than AFP in pediatric YSTs (P < 0.001). CONCLUSIONS: LIN28 is a sensitive marker for pediatric YSTs and it can be used to distinguish them from mature teratomas. LIN28 is likely to become a new and valuable biomarker for diagnosing of pediatric YST.

Interleukin (IL)-24 transforms the tumor microenvironment and induces anticancer immunity in a murine model of colon cancer.

Interleukin-24 (IL-24) is a novel tumor suppressor and can mediate the induction of Th1-type cytokines from peripheral blood mononuclear cells. The individual properties of IL-24 have been previously examined; however, its in vivo immunological consequences and antitumor properties have not been previously evaluated with respect to colon cancer, the most commonly diagnosed cancer in China. Thus, we evaluated whether IL-24 could inhibit the progression of colon cancer in murine models with intact immune competence and explored the mechanisms underlying the immunological effects of IL-24 on colon cancer progression in vivo. In these murine models, we found that IL-24 promoted CD4(+) T cells and CD8(+) T cells to secrete interferon gamma and enhanced the cytotoxicity of CD8(+) T cells in vivo. More importantly, we demonstrated that IL-24 transformed the tumor microenvironment and enhanced antitumor effects in favor of tumor eradication. Additionally, IL-24 expression correlated inversely with the clinical stage of human colorectal cancer. Thus, our study establishes a role of IL-24 in promoting antitumor immune responses and supports the development of a novel cytokine immunotherapy against colon cancer.

[Identification of a novel T421C mutation of α-1,3-N-acetylgalactosaminyltransferase allele responsible for an A variant].

OBJECTIVE: To investigate the molecular basis of an individual featuring weak A phenotype of ABO blood group system. METHODS: Serologic investigations, serum transferases activity assay and absorption-elution test were carried out to identify the ABO blood group. The 7 exons and flanking introns of ABO glycosyltransferase gene were amplified with polymerase chain reaction (PCR). The products were sequenced bidirectinally following enzyme digestion. Haplotypes of exons 6 and 7 of the ABO gene were analyzed. RESULTS: A weak A antigen was identified on red blood cells of the proband. Eight heterozygous sites in exons 6 and 7 (261delG 297A/G, 421C/T, 467C/T, 646T/A, 681G/A, 771C/T, 829G/A) of the ABO gene were identified. Based on haplotype analysis, one allele was determined as O02, while a novel mutation 421T>C was identified in another allele, which resulted in the amino acid change Ser141Pro of the A glycosyltransferase. CONCLUSION: Above results suggested that amino acid substitutions resulted from a novel mutation 421T>C of the ABO gene may decrease the enzymatic activity and result in the weak A phenotype.

[Analysis of frequency of a RHD1227A allele in Chinese Hans].

OBJECTIVE: To determine the frequency of RHD1227A allele in Chinese Hans. METHODS: For a total of 890403 ethnic Han blood donors, the D antigen was determined with a saline method and indirect antiglobulin test. The RHD1227A allele and number and type of zygosity of RHD gene were determined with PCR sequence specific primer (PCR-SSP). Allelic frequency was calculated through statistics. RESULTS: In total 2385 donors were found to be Rh-negative, 108 individuals were found to be weakly positive for D antigen (including weak D and partial D phenotypes). The remaining 887 910 individuals were Rh-positive. Among the Rh-negative individuals, 516 were found with RHD1227A. Among these, 467 were RHD1227A/d and 49 were RHD1227A/RHD1227A. Two of 108 D antigen weak-positive individuals were found as RHD1227A/RHD+. In addition, 8 of 1073 random Rh-positive samples were found to be RHD1227A/RHD+. The allele frequency of RHD1227A in the population was calculated as 0.004 036. The figure should be 0.006 682 if calculated based on the detected rate of the allele in Rh-negative individuals, and 0.007 884 if calculated based on the reported average phenotype rate of DEL in Rh-negative individuals. CONCLUSION: By taking main influencing factors such as the RHD zygosity, the rate of RHD1227A and DEL phenotype may be determined. The allele frequency of RHD1227A in Chinese Hans is between 0.004 036 and 0.007 884.

A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an.

BACKGROUND: This study is a comprehensive analysis of RHD in D-negative phenotypes in saline, in Xi'an, Shanxi province, central China. MATERIAL AND METHODS: DCcEe in saline was measured for each blood sample from every donor between January 2008 and June 2012 in the Xi'an Blood Centre, China. D-negative results were confirmed by an indirect antiglobulin test and further investigated by adsorption-elution as required. The initial step of molecular analysis was RHD zygosity testing. Then RHD was detected by a sequence-specific polymerase chain reaction system for RHD(1227G>A), weak D type 15, and RHD(711delC) alleles for the samples carrying at least one RHD. For the remaining non-identified samples, ten RHD exons were amplified using a previously widely used RHD coding region sequencing method. Some RHD/RHCE conversion alleles were identified while those remaining were submitted to direct sequencing. RESULTS: Overall, 2,493 D-negative samples in saline were detected in a total of 890,403 donors (D-negative rate, 0.28%). Among the D-negative individuals, RHD deletion (d/d) was assessed in 1685 donors (67.59%). Non-functional RHD alleles were detected in 184 donors (7.38%), the most common being the RHD-CE(2-9)-RHD and RHD(711delC) alleles. Two new alleles were observed and family investigations were performed; RHD(1227G>A) DEL was detected in 516 individuals (20.70%), and weak D or partial D variants were identified in 108 donors (4.33%). The most common alleles were weak D type 15, D(VI) type 3 and D(V) type 2. Four new weak D alleles were noted, and two cases of RHD(1227G>A)/weak D type 15 heterozygosity were confirmed. CONCLUSIONS: Currently, it seems to be difficult to observe any new RHD alleles in the Han Chinese population. D prediction in this population is easier because popular alleles are dominant, accounting for about 99.80% of alleles in D-negative people. Weak D types and partial D variants are rare and occur in approximately 0.01% of the population.