ObjectivesThalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment.MethodsIn this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by hematological tests. A total of 3973 samples of suspected thalassemia carriers were further characterized by combined next‐generation sequencing (NGS) and Gap‐PCR.ResultsIn total, 1704 subjects were diagnosed as thalassemia carriers with a total prevalence rate of 10.78%, including 943 α‐thalassemia carriers, 708 β‐thalassemia carriers, and 53 composite α and β‐thalassemia carriers. The prevalence rates of α‐thalassemia, β‐thalassemia, and composite α and β‐thalassemia were 5.97%, 4.48%, and 0.34%, respectively. Meanwhile, we characterized 19 α‐thalassemia variations and 21 β‐thalassemia variations in thalassemia carriers. Approximately 2.88% of thalassemia carriers would be missed by traditional genetic analysis. In addition, four novel thalassemia mutations and one novel abnormal hemoglobin mutation were identified.ConclusionsOur data suggest a high prevalence of thalassemia and a diverse spectrum of thalassemia‐associated variations in Chenzhou. Also, combined NGS and Gap‐PCR is an effective thalassemia screening method. Our findings might be helpful for prevention and treatment of thalassemia in this region.

The synthesis of high-molecular-weight (MW) polyesters from the copolymerization of maleic anhydride (MA) and epoxides remains a challenge. Herein, we describe the copolymerization of MA with propylene oxide (PO) using a heterogeneous zinc−cobalt(III) double-metal cyanide complex (Zn−Co(III)DMCC), which afforded polyesters with high number-average molecular weights (M n s) of up to 82.8 kDa (previous record: 17.0 kDa). Moreover, the polyesters with cismaleate could be transformed into biodegradable poly(propylene fumarate)s with high M n s via cis−trans isomerization. The key strategy is using excess MA (e.g., MA/epoxide molar ratio: 2−1/1, previously less than 1) and toluene as the solvent. This approach can afford polyesters with an ester content of >99%, restrain the cross-linking reaction of the generated polymers, and promote the separation of products and excess MA. This method was successfully extended to several epoxides to produce a family of high-MW polyesters (M n s: up to 152.0 kDa). The resultant MA-derived polyesters exhibit initial decomposition temperatures of up to 311.5 °C and significantly improved stress and elongation at break of up to 25.3 MPa and 1573%, respectively. This work provides a facile and atom-economic process for synthesizing high-MW MA-derived polyesters and biodegradable polyesters with the potential for largescale production, and the polyesters have the potential to be used as biomedical materials and disposable packing materials.

Alternating copolymerization of epoxides with cyclic anhydrides is a versatile method to produce functional polyesters. However, this strategy remains challenging to synthesize semicrystalline polyesters. Here, we describe a facile and efficient approach to synthesize semicrystalline polyesters via the copolymerization of low-cost isobutylene oxide (IBO) and various cyclic anhydrides. Using a heterogeneous catalyst, zinc–cobalt­(III) double metal cyanide complex, inhibits the isomerization of IBO and demonstrates the productivity up to 680 g polyester/g catalyst. The resulting polyesters possess >99% alternating degree, >90% head-to-tail linkages, and molecular weights up to 42.3 kDa. This method also achieves low-molecular weight (3.9–7.1 kDa) hydroxy telechelic polyesters with narrow dispersities (1.3–1.4) upon adding water as the chain transfer agent. These unprecedented polyesters are semicrystalline owing to their high regioregularity and exhibit melting temperatures (T m) ranging from 67 to 141 °C. Interestingly, upon tuning cis/trans isomerization of the CC bond, the unsaturated polyester prepared from IBO and maleic anhydride demonstrates a unique crystalline (T m = 72 °C)-amorphous-crystalline (T m = 153 °C) transformation.

The copolymerization of biorenewable succinic anhydride (SA) with propylene oxide (PO) is a promising way to synthesize biodegradable aliphatic polyesters. However, the catalytic systems for this reaction still deserve to be explored because the catalytic activity of the reported catalysts and the molecular weights of produced polyesters are unsatisfied. Herein, we investigate the copolymerization of SA with PO catalyzed by the organoborane/base pairs. The types of Lewis bases, organoboranes, and their loadings all have a large impact on the activity and selectivity of the copolymerization. High ester content of >99% was achieved when performed the PO/SA copolymerization using triethyl borane (TEB)/phosphazene base P1-t-Bu (t-BuP1) pair with a molar ratio of 1/1 at 30–80 °C. Using TEB/t-BuP1 pair with the molar ratio of 4/1 at 80 °C, the turnover of frequency (TOF) was up to 128 h−1 and clearly higher than the known TOF values (0.5–34 h−1) of the PO/SA copolymerization by previously reported catalysts. The number-average molecular weights (Mns) of the resultant polyesters reached up to 20.4 kg/mol when copolymerization was carried out using TEB/t-BuP1 (1/1, in molar ratio) at 30 °C.

Phelan–McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan–McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan–McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother. We have also used whole genome low-coverage paired-end next generation sequencing to determine whether the parent is the carrier of translocation with terminal 22q13 deletions. We found that both proband and her younger brother are comprises of a novel deletion of 22q13.31q13.33, harboring genes were associated with several clinical phenotype such as severity of speech delay, neonatal hypotonia, delayed in age of walking, male genital anomalies, dysplastic toenails, large and fleshy hands, macrocephaly, short stature, facial asymmetry, and atypical reflexes. Probands and her younger brother inherited this translocation from their mother whereas their father is genotypically normal. In conclusion, our present study expands the deletion spectrum and report a novel deletion associated with Phelan–McDermid syndrome.