Polymorphism of the <i> FaOMT </i> and <i> FaFADl </i> genes for fruit flavor volatiles in strawberry varieties and wild species from the genetic collection of the Michurin Federal... by A. S. Lyzhin, I. V. Luk’yanchuk, E. V. Zhbanova

“…The functional allele of the FaOMT gene in the homozygous state (FaOMT+FaOMT+ genotype) was detected in 51.2 % of the accessions. …”
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Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“…To confirm the diagnosis of PCH2A, genetic analysis is required detecting homozygous missense mutation in the TSEN54 gene. In this article we present a clinical case of a neonate whose diagnosis of PCH2A was suspected by clinical symptoms and MRI features and later confirmed by identifying homozygous missense mutation in the TSEN54 gene. …”
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Whole-Genome Sequencing Revealed a Late-Maturing Isogenic Rice Koshihikari Integrated with Hd16 Gene Derived from an Ise Shrine Mutant by Motonori Tomita, Ryotaro Tokuyama, Shosuke Matsumoto, Kazuo Ishii

“…Next, the linkage relationship of a single late-maturing gene with the SSR markers on the long arm of chromosome 3 was inferred by using late-maturing homozygous F2 segregants. Moreover, genetic analyses of late maturity were conducted through the process of six times of continuous backcross with Koshihikari as a recurrent parent by using the late-maturing homozygous F3 line as a nonrecurrent parent, thus developing a late-maturing isogenic Koshihikari (BC6F2). …”
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De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura by Ibrahim Alharbi, Sarah Alqarni, Wed Khayyat, Amirah Almatrafi

“…Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. …”
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Unveiling the molecular and comorbidity profile among transfusion-dependent and nontransfusion-dependent beta-thalassemic patients in Baghdad city by Atyab Abdulhameed Alaqidi, Hind Shaker Al-Mamoori

“…CONCLUSIONS: The compiling clinical and molecular data revealed in the current study, has indicated an aggregation of certain homozygous BT genotypes in Baghdad city that possibly influenced the comorbidity profiles of our patients.…”
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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. …”
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Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose by Shiqi Zhang, Juan Xu, Di Cui, Shujuan Jiang, Xin Xu, Yi Zhang, Dongchun Zhu, Li Xia, Benito Yard, Yonggui Wu, Qiu Zhang

“…Only 0.5% of individuals carried the homozygous (CTG)5 genotype and individuals carrying the homozygous (CTG)4 genotype were not found. …”
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The Impact of Osteopontin Gene Variations on Multiple Sclerosis Development and Progression by Cristoforo Comi, Giuseppe Cappellano, Annalisa Chiocchetti, Elisabetta Orilieri, Sara Buttini, Laura Ghezzi, Daniela Galimberti, Franca Guerini, Nadia Barizzone, Franco Perla, Maurizio Leone, Sandra D’Alfonso, Domenico Caputo, Elio Scarpini, Roberto Cantello, Umberto Dianzani

“…We found that only +1239A>C SNP displayed a statistically significant association with MS development, but both +1239A>C and -156G>GG had an influence on MS progression, since patients homozygous for both +1239A and −156GG alleles displayed slower progression of disability and slower switch to secondary progression than those carrying +1239C and/or −156G and those homozygous for +1239A only. …”
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Human SLC26A1 Gene Variants: A Pilot Study by Paul A. Dawson, Pearl Sim, David W. Mudge, David Cowley

“…DNA sequence analyses showed missense mutations in seven patients: one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. …”
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Inheritance of protein markers in the succession of generations of interspecific hybrids of cotton by Sh. Yunuskhanov, Z. Abdurazakova

“…Plants in which this protein was absent belonged to the homozygous phenotypic class with marker H-0.13.…”
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Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene by ZHANG Xu, LI Xiaofeng, LI Jianping

“…Normal sequence of RHD and RHCE genes, and a homozygous variation c. 572G>A (p. R191Q) of the RHAG gene were revealed by direct sequencing. …”
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Polymorphisms of Leptin (-2548 G/A) and Leptin Receptor (Q223R) Genes in Iranian Women with Breast Cancer by Reza Mahmoudi, Bahareh Noori Alavicheh, Mohammad Amin Nazer Mozaffari, Mohammad Fararouei, Mohsen Nikseresht

“…For -2548 G/A polymorphism, the genotypes were homozygous AA (OR = 1.13; p=0.8) and heterozygous GA (OR = 0.41; p=0.2) and for Q223R polymorphism, the genotypes were homozygous RR (OR = 6.7; p=0.09) and heterozygous QR (OR = 8.3; p=0.06). …”
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Association of the rs562556 PCSK9 Gene Polymorphism with Reduced Mortality in Severe Malaria among Malian Children by Olesya Fedoryak, Charles Arama, Issa Diarra, Bouréma Kouriba, Michel Chrétien, Majambu Mbikay

“…Sixty-four children were either heterozygous or homozygous for the minor G allele (carriers); 143 children were homozygous for the common A allele (noncarriers). …”
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AT1 Receptor Gene Polymorphisms in relation to Postprandial Lipemia by B. Klop, T. M. van den Berg, A. P. Rietveld, J. Chaves, J. T. Real, J. F. Ascaso, R. Carmena, J. W. F. Elte, Manuel Castro Cabezas

“…Postprandial lipemia was significantly higher in homozygous carriers of the 1166-C allele (9.39±8.36 mM*h/L) compared to homozygous carriers of the 1166-A allele (2.02±6.20 mM*h/L) (P<0.05). …”
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ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance by Satoshi Katagiri, Yuya Negishi, Kei Mizobuchi, Mitsuyoshi Urashima, Tadashi Nakano, Takaaki Hayashi

“…We identified disease-causing ABCC6 variants that were in homozygous or compound heterozygous states in 13 of 18 families (72.2%). …”
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APOE Genetic Polymorphism rs7412 T/T Genotype May Be a Risk Factor for Essential Hypertension among Hakka People in Southern China by Hui Rao, Heming Wu, Zhikang Yu, Qingyan Huang

“…Patients with hypertension who were APOE rs7412T/T homozygous had higher TG and TC levels and lower LDL-C and Apo-B levels. …”
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Haploid biotechnology as a tool for creating a selection material for sugar beets by E. O. Kolesnikova, E. I. Donskikh, R. V. Berdnikov

“…It has been shown that the use of these approaches is relevant when obtaining new highly productive hybrids and varieties of agricultural plants; however, the methods for the production of homozygous forms in sugar beet still require additional research aimed at increasing the efficiency and reproducibility of each stage of the process.…”
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Red blood cell indices in different hemoglobinopathies: A cross-sectional study in Eastern India by Ayandip Nandi, Manas Talukdar, Saikat Bhattacharya, Susruta Sen, Supratik Biswas, Kuntal Roy

“…No significant difference of mean was found between HbE homozygous and E-beta. E-trait differs from both HbE homozygous and E-beta significantly in three parameters, namely, RDW, MCV and MCH. …”
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DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature by Fatemeh Sodeifian, Noosha Samieefar, Sepideh Shahkarami, Elham Rayzan, Simin Seyedpour, Meino Rohlfs, Christoph Klein, Delara Babaie, Nima Rezaei

“…WES demonstrated a novel homozygous nonsense variant in DNAH11 (c.5247G > A; p. …”
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Polymorphism of monogenic scab resistance loci in apple varieties by A. S. Lyzhin, N. N. Savel’eva

“…‘Svezhest’, ‘Freedom’ and ‘GoldRush’) homozygous dominant for this locus. The marker AD13-SCAR was detected in 25.0% of the studied forms (the putative genotype for the resistance gene is Rvi4Rvi4 or Rvi4rvi4). …”
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