图二的情况是,序号一的ush2a等位基因携带一个在一号染色体216270538位置上的SNP(Single Nucleotide Polymorphism,读作“斯尼普”,医生会这么说),致病性分类为致病(pathogenic),所以可被称为失去功能突变(loss-of-function mutation),这个突变源自父亲(这里涉及患者个人信息所以我没把父母源检测展示出来),基因亚区为22号...
[6]Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet. 2001 Jul;69(1):228-34. [7]Dulla K, Slijkerma...
[6]Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet. 2001 Jul;69(1):228-34. [7]Dulla K, Slijkerma...
In 13 patients (28% of the cohort) only a single heterozygous mutation was found. There was little similarity in appearance among our overall cohort of patients with known USH2A mutations. Retinal pigmentation varied from "none" to "severe". Atrophic changes in the retinal pigment epithelium ...
A great majority of these mutations are private or present in a few families.14 However, a prevalent mutation located in exon 13, designated as c.2299delG, is frequently found in the European and US patients, and also in isolated cases from South America, South Africa and Asia. The ...
as well as the splicing mutation c.8559-2A4G in 4 of the 19 patients, indicating that the incidence of mutations in the Japanese individuals was similar to that in Caucasian individuals, even though the mutation spectrum of the USH2A gene considerably differed between the two populations.13–15...
USH2A-targeted strategies can be divided into two categories, mutation-independent and -dependent. The mutation-independent can be applied to all the USH2A-related diseases regardless of the pathogenic mutation. It involves the generation of healthy copies of USH2A coding sequence (CDS) using viral...
[11] Eisenberger T, Slim R, Mansour A, et al. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3[J]....
KEYWORDS: Usher syndromes/genetics;Usher syndromes/etiology;Genes;Mutation;Review Corresponding author: Yang Liping, Email: nc.ude.umjbgnaygnipilxela FUNDING: National Natural Science Foundation of China(81770966) COPYRIGHTS: Copyright by Chinese Medical Association No content published by the journa...
KEYWORDS: Usher syndromes/genetics;Usher syndromes/etiology;Genes;Mutation;Review Corresponding author: Yang Liping, Email: nc.ude.umjbgnaygnipilxela FUNDING: National Natural Science Foundation of China(81770966) COPYRIGHTS: Copyright by Chinese Medical Association No content published by the journa...