Surface urban heat island detected by all-weather satellite land surface temperature.

Since the existing satellite thermal infrared (TIR) land surface temperature (LST) is susceptible to cloud contamination and other factors, surface urban heat island (SUHI) studies based on TIR LST are limited to clear-sky conditions and are not representative of SUHI under all-weather conditions, which result in a possible clear-sky bias for SUHI. This study introduces a newly released 1-km all-weather LST product (TRIMS LST), which is spatiotemporally seamless, to investigate the real SUHI under all-weather conditions for five megacities (i.e. Harbin, Beijing, Shanghai, Guangzhou, and Chengdu) in China. Firstly, this study compares TRIMS SUHI with MODIS SUHI under clear-sky, partial-cloudy, and cloudy conditions. Secondly, the extent of the influence of cloudiness on SUHI is quantified. Finally, the monthly TRIMS SUHI is used to analyze the clear-sky bias that is caused by using only clear-sky data for the SUHI. Results indicate that (i) the absence of pixel data leads to negative offsets in the SUHI intensities calculated by MODIS LST, and these offsets expand gradually with increases in the number of missing-pixel data, causing the maximum offset to reach -1.83 °C under cloudy conditions in Chengdu; (ii) cloud can mitigate the SUHI for most cities: when the cloud coverage in Guangzhou reaches 90-100%, the daytime SUHI intensity decreases from 2.66 °C for clear-sky conditions to 1.70 °C; the mitigating effect differs at daytime and nighttime; and (iii) clear-sky bias varies significantly across climate zones and seasons, with a varying range of -1.6-1.2 °C for the five selected cities.

[Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].

OBJECTIVE: To explore the genetic etiology of two pedigrees affected with congenital arthrogryposis. METHODS: Whole exome sequencing (WES) was used to screen potential variations in the proband. Suspected variations were analyzed with bioinformatics software and validated by Sanger sequencing. RESULTS: A heterozygous c.1123G>A (p.Glu375Lys) variation was detected in the proband and an affected fetus from pedigree 1, while a de novo heterozygous c.118 G>A (p.Val40Met) variation was detected in an affected fetus from pedigree 2. CONCLUSION: The two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees. Above results have facilitated genetic counseling and prenatal diagnosis.

Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.

OBJECTIVES: The frequency and spectrum of mutations in deafness-causing genes differs significantly according to the ethnic population and region under investigation. The molecular etiology of nonsyndromic hearing loss (NSHL) in Wenzhou, China, has not yet been systematically elucidated. To provide accurate genetic testing and counseling in this area, we investigated the molecular etiology of NSHL in a deaf population from Wenzhou. METHODS: A total 506 unrelated patients with NSHL were enrolled in this study. Nine hotspot mutations in four major deafness genes were investigated by sequencing (Group I: 187 patients enrolled between 2011 and 2015) or allele-specific PCR-based universal array (Group II: 319 patients enrolled between 2016 and 2017). The investigated genes included GJB2 (c.35delG, c.176_191del16, c.235delC, c.299-300delAT), SLC26A4 (c.2168A > G, c.919-2A > G), mtDNA 12SrRNA (m.1555A > G, m.1494C > T), and GJB3 (c.538C > T). Furthermore, whole coding region sequencing or improved multiplex ligation detection reaction (IMLDR) were performed for patients who carried mono-allelic variants of GJB2 and SLC26A4, in order to detect other mutations among these patients. RESULTS: GJB2 mutations were detected in 22.92% (116/506) of the entire cohort and SLC26A4 mutations were found in 6.52% (33/506) of the cohort. GJB3 mutations were detected in 0.79% (4/506) of the cohort. The mutation rate of mitochondrial DNA 12SrRNA in our patients was 17.40% (88/506), including 17.00% (86/506) with the m.1555A > G mutation and 0.40% (2/506) with the m.1494C > T mutation. The allelic frequency of the c.235delC mutation was 14.62% (148/1012), which is significantly higher than that of c.109G > A (33/1012, 3.26%), c.299_300delAT (13/1012, 1.28%), and c.176_191del16 (6/1012, 0.59%). The most common pathogenic mutation of SLC26A4 was the c.919-2A > G mutation (37/1012, 3.66%), followed by c.2168A > G (6/1012, 0.59%), and c.1229C > T (4/1012, 0.40%). Moreover, five rare pathogenic variants of GJB2 and eight rare pathogenic variants of SLC26A4 were identified. CONCLUSION: GJB2 is the primary deafness-causing gene in deaf patients from Wenzhou, China; this is consistent with what is observed in most Chinese populations. However, the surprisingly high rate of the m.1555A > G mutation (17.00%) in patients from Wenzhou was significantly higher than in other populations in China. These findings highlight the specificity of the common deafness-causing gene mutation spectrum in the Wenzhou area. This information may be of benefit for genetic counseling and risk assessment for deaf patients from this area.

[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].

OBJECTIVE: To analyze variant of SGCA gene in a Chinese pedigree affected with limb-girdle muscular dystrophy type 2D with whole exome sequencing (WGS). METHODS: Multiplex ligation-dependent probe amplification (MLPA) was employed to detect large fragment deletion or duplication of the DMD gene. FastTargetTM next generation sequencing was used to detect variants of the DMD gene, and the result was verified by Sanger sequencing. After excluding the diagnosis of DMD for the proband, WGS was applied to test the proband and his parents. Suspected pathogenic variants were validated by Sanger sequencing. RESULTS: No variant, deletion or duplication of the DMD gene was detected. Whole exome sequencing showed that the proband has carried compound heterozygous missense variants c.409G>A (p.Glu137Lys) and c.409G>C (p.Glu137Gln) in exon 5 of the SGCA gene, which were respectively inherited from his mother and father. Neither variant was found in DNA derived from the cord blood sample. CONCLUSION: The c.409G>A (p.Glu137Lys) and c.409G>C (p.Glu137Gln) compound heterozygous missense variants probably underlie the disease in the proband. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree.

INTRODUCTION: Facioscapulohumeral muscular dystrophy 1 (FSHD1) is a relatively common autosomal dominant adult muscular dystrophy with variable disease penetrance. The disease is caused by shortening of a D4Z4 repeat array located near the telomere of chromosome 4 at 4q35. This causes activation of a dormant gene DUX4, permitting aberrant DUX4 expression which is toxic to muscles. Molecular diagnosis of FSHD1 by Southern blot hybridization or FISH combing is difficult and time consuming, requiring specialist laboratories. As an alternative, we apply a novel approach for the diagnosis of FSHD1 utilizing single-molecule optical mapping (SMOM). METHODS: Long DNA molecules with BssS1 enzyme marking were subjected to SMOM on the Bionano Genomics platform to determine the number of D4Z4 repeats. Southern blot and molecular combing were used to confirm the FSHD1 haplotypes. RESULTS: In a study of a five-generation FSHD1 pedigree, SMOM correctly diagnosed the disease and normal haplotypes, identifying the founder 4qA disease allele as having 4 D4Z4 repeat units. Southern blot and molecular combing analysis confirmed the SMOM results for the 4qA disease and 4qB nondisease alleles. CONCLUSION: Based on our findings, we propose that SMOM is a reliable and accurate technique suitable for the molecular diagnosis of FSHD1.

A long-term 0.01° surface air temperature dataset of Tibetan Plateau.

The surface air temperature (Ta) dataset of the Tibetan Plateau is obtained by downscaling the China regional surface meteorological feature dataset (CRSMFD). It contains the daily mean Ta and 3-hourly instantaneous Ta. This dataset has a spatial resolution of 0.01°. Its time range for surface air temperature dataset is from 2000 to 2015. Spatial dimension of data: 73°E-106°E, 40°N-23°N. The Ta with a 0.01° can serve as an important input for the modeling of land surface processes, such as surface evapotranspiration estimation, agricultural monitoring, and climate change analysis.