Mitochondrial genome polymorphism in the East Slavic population of Northeastern Siberia [0.03%]
东北西伯利亚东斯拉夫人群的线粒体基因组多态性分析
B A Malyarchuk,G A Denisova,A N Litvinov
B A Malyarchuk
Data on mitochondrial DNA (mtDNA) polymorphism at the population level are of significant interest to researchers in the fields of population and ethnic genetics, forensic medicine, and forensic science. In the present study, we have obtain...
Crouzon syndrome: preimplantation genetic testing for a familial case with a whole and a mosaic variant of the disease [0.03%]
克rouzon综合征：一种全基因组和嵌合型家族病例的植入前胚胎遗传学检测
E V Soloveva,M M Skleimova,L I Minaycheva et al.
E V Soloveva et al.
Crouzon syndrome, which is a hereditary craniosynostosis, can be the result of inheritance from either parent, as well as de novo mutations in the FGFR2 gene. With a confirmed molecular genetic diagnosis, preimplantation genetic testing for...
Familial translocation between chromosomes 3 and 10: meiotic segregation, diagnostics and clinical features of chromosomal imbalance [0.03%]
关于3号和10号染色体之间的易位：减数分裂的分离、检测及临床不平衡特征
A V Vozilova,A S Tarasova,E A Ivanov et al.
A V Vozilova et al.
Reciprocal translocations are the most common structural chromosomal rearrangements, occurring at a frequency of 0.08-0.3 % in the human population. The vast majority of carriers of reciprocal translocations are phenotypically normal, but h...
Study of the meiotic segregation of chromosome 7 with a paracentric inversion in spermatosoa of a heterozygous carrier [0.03%]
染色体7中心着丝粒倒位杂合子生精细胞的减数分裂分离研究
M M Antonova,D A Yurchenko,Zh G Markova et al.
M M Antonova et al.
A paracentric inversion (PAI) is a rare type of balanced intrachromosomal structural rearrangement. Heterozygotes for PAI are usually phenotypically normal, but the presence of the inversion may occasionally lead to synapsis and recombinati...
Mitogenomic analysis of a representative of the Chernyakhov culture in the Middle Dniester and their genetic relationship with the Slavs in the context of paleoanthropological data [0.03%]
摩尔多瓦中德涅斯特河地区切诺卡霍夫文化代表的线粒体基因组分析及其与斯拉夫人关系的古人类学证据研究
E V Rozhdestvenskikh,T V Andreeva,A B Malyarchuk et al.
E V Rozhdestvenskikh et al.
Occupying a fairly extensive territory within the East European Plain, representatives of the Chernyakhov culture interacted with many synchronous tribes of other cultures inhabiting neighbouring regions. The question of a possible Proto-Sl...
A rare case of uniparental disomy 9 concomitant with low-level mosaicism for trisomy 9 [0.03%]
9号染色体单亲二倍体合并低水平的9三体型嵌合体病例报告
A S Iakovleva,Zh G Markova,L A Bessonova et al.
A S Iakovleva et al.
Uniparental disomy of chromosome 9, in combination with low-level mosaicism for chromosome 9, represents a rare chromosomal disorder. One of the mechanisms underlying the formation of uniparental disomy is the trisomy rescue, which concurre...
The Forest and Tundra Nenets: differences in Y-chromosome haplogroups [0.03%]
涅涅茨人的Y染色体单倍群差异：森林与苔原地区的对比
V N Kharkov,L V Valikhova,D S Adamov et al.
V N Kharkov et al.
The Forest and Tundra Nenets in different areas of the Yamalo-Nenets Autonomous Okrug were studied using Y-chromosome markers. The results of analyzing the genetic structure of Nenets clans using 44 STR markers of the Y chromosome are prese...
Population transcriptomics: a novel tool for studying genetic diversity in human populations under normal and pathological conditions [0.03%]
人口转录组学：一种研究正常及病理条件下人类群体遗传多态性的新工具
A A Babovskaya,E A Trifonova,V A Stepanov
A A Babovskaya
Genetic mechanisms regulating gene expression encompass complex processes such as transcription, translation, epigenetic modifications, and interactions of regulatory elements. These mechanisms play a crucial role in shaping phenotypic dive...
Rare missense substitutions in the mitochondrial DNA genes in patients with ventricular tachycardia [0.03%]
室性心动过速患者线粒体DNA基因罕见错义突变
M V Golubenko,N P Babushkina,V A Korepanov et al.
M V Golubenko et al.
Human mitochondrial DNA (mtDNA) exhibits high population-level polymorphism. While certain pathogenic mtDNA variants are known to cause hereditary mitochondrial syndromes, often presenting with cardiac arrhythmias, life-threatening ventricu...
A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development [0.03%]
短臂6p22.3-p24.3区段缺失综合征的一个家系及双生子报告
G D Moskvitin,D B Kochkina,M K Gurinova et al.
G D Moskvitin et al.
Interstitial deletions of the short arm of chromosome 6 are even rarer than distal deletions of 6p24-pter, with an incidence rate of 1:1,000,000 (according to MalaCards, https://www.malacards.org/). These deletions are associated with devel...