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Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk.
A broadband omnidirectional absorber which is realized by heterostructures containing a collision plasma layer and a zero − n̅ mirror is theoretically investigated. A collision plasma layer and an appropriate dielectric layer are put on the top of the PC. It is shown to absorb roughly 70% of all available electromagnetic wave in a relative omnidirectional absorption band width 244 MHz. The absorption band edge of the PC is influenced by the range of the reflection band gap. Meanwhile, the absorption range for the transverse magnetic (TM) wave decreases at large incident angle. Compared with some previous designs, our proposed structure has a relative flatter total absorption spectrum over a broad microwave frequency range and using a zero − n̅ gap as a mirror is insensitive to the incident angle. This kind of heterostructure offers additional opportunities to design novel optoelectronic devices.
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