scholarly journals Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Akihiro Hasegawa ◽  
Osamu Samura ◽  
Taisuke Sato ◽  
Tomona Matsuoka ◽  
Yuki Ito ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism Array ◽  
Marker Chromosome ◽  
Male Infant ◽  
Japanese Woman ◽  
Structural Abnormality ◽  
Single Nucleotide ◽  
Small Supernumerary Marker Chromosome ◽  
Old Japanese ◽  
Fetal Karyotype

We present the characterization of a case with a small supernumerary marker chromosome (sSMC) detected prenatally derived from Xq28 and 14q11.2 maternal translocation. A 33-year-old Japanese woman, primigravida, underwent amniocentesis because of fetal growth restriction and fetal structural abnormality at 30 weeks of gestation. The fetal karyotype was identified as 47,XY,+mar. Additionally, the single nucleotide polymorphism array analysis revealed copy number gains at Xq28 and 14q11.2. A male infant, weighing 1,391 g, was delivered at term by cesarean section. Maternal and paternal karyotypes were 46,X,t(X; 14)(q28; q11) and 46,XY, respectively. These findings indicated that the sSMC might have originated from chromosome disjunction at a ratio of three to one. Here we describe a case with an sSMC derived from Xq28 and 14q11.2. Our findings suggest that this sSMC is most likely pathogenic. The collection of additional cases may be required.

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

2013 ◽  
Vol 163 (4) ◽  
pp. 1174-1178.e3 ◽  
Author(s):  
Ana Spreiz ◽  
Roberta S. Guilherme ◽  
Claudio Castellan ◽  
Andrew Green ◽  
Olaf Rittinger ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Single Nucleotide Polymorphism Array ◽  
Ring Chromosome ◽  
Nucleotide Polymorphism ◽  
Chromosome 18 ◽  
Single Nucleotide ◽  
Ring Chromosome 18

scholarly journals HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency

Blood ◽  
1998 ◽  
Vol 91 (1) ◽  
pp. 128-133 ◽  
Author(s):  
Toshio Shigekiyo ◽  
Hidemasa Yoshida ◽  
Kazuya Matsumoto ◽  
Hiroyuki Azuma ◽  
Sadao Wakabayashi ◽  
...  
Keyword(s):  
Family Members ◽  
Japanese Woman ◽  
Nucleotide Position ◽  
Single Nucleotide ◽  
Her Family ◽  
Intracellular Degradation ◽  
Congenital Deficiency ◽  
The Family ◽  
Normal Japanese

AbstractPreviously, we found the first congenital deficiency of histidine-rich glycoprotein (HRG) in a Japanese woman with thrombosis. To elucidate the genetic basis of this deficiency, we first performed Southern blot analysis and found no gross deletion or insertion in the proband's HRG gene. We then examined the nucleotide sequences of all seven exons of the proband's HRG gene. A single nucleotide substitution, G to A at nucleotide position 429, which mutates Gly85 to Glu in the first cystatin-like domain, was found in exon 3 in 13 of 22 amplified clones. This mutation generates a unique Taq I site. Exon 3 was amplified from the proband, her family members, and 50 unrelated normal Japanese individuals, and Taq I fragmentation was examined. Fragmentation of exon 3 was observed in one allele of the genes from the proband and the family members who also have decreased plasma levels of HRG. Fifty unrelated normal Japanese individuals had a normal HRG gene, indicating that the G to A mutation is not a common polymorphism. To elucidate the identified mutation as a cause for the secretion defect of HRG in the proband's plasma, we constructed and transiently expressed the recombinant Tokushima-type HRG mutant (Gly85 to Glu) in baby hamster kidney (BHK) cells, and examined an intracellular event of the mutant protein. The results showed that only about 20% of the Tokushima-type HRG was secreted into the culture medium, and intracellular degradation of the mutant was observed. Thus, the present study strongly suggests that the HRG deficiency is caused by intracellular degradation of the Gly85 to Glu mutant of HRG in the proband.

Characterization of PmDGM conferring powdery mildew resistance in Chinese wheat landrace Duanganmang

Plant Disease ◽  
2021 ◽  
Author(s):  
Yanan Wu ◽  
Xiaoting Yu ◽  
Xu Zhang ◽  
Lijuan Yan ◽  
Li Gao ◽  
...  
Keyword(s):  
Powdery Mildew ◽  
Powdery Mildew Resistance ◽  
Single Nucleotide Polymorphism Array ◽  
Single Nucleotide ◽  
Mildew Resistance ◽  
Wheat Landrace ◽  
Yield And Quality ◽  
Genome Homology ◽  
Chinese Wheat

Wheat powdery mildew, caused by Blumeria graminis f. sp. tritici (Bgt), is a devastating disease threatening yield and quality. Host resistance is considered the most effective and preferred means to control this disease. Wheat landrace Duanganmang (DGM) showed high resistance or near immunity to Bgt mixture from Henan province, China. DGM was crossed with highly susceptible Chinese wheat landrace Huixianhong (HXH) and cultivar Shimai 15 (SM15) to produce genetic populations. The resistance of DGM to Bgt isolate E09 was shown to be controlled by a single dominant Mendelian factor, tentatively designated PmDGM. Marker analysis and 55K SNP (single nucleotide polymorphism) array scanning showed that this gene was positioned in the Pm5 interval (2.4 cM or 1.61 Mb) flanked by Xhenu099 and Xmp1158 in the Chinese Spring reference genome. Homology-based cloning and sequence analysis demonstrated that DGM has the identical NLR gene (Pm5e) and RXL gene reported in Fuzhuang 30 (FZ30) conferring and modifying the powdery mildew resistance, respectively. However, based on the different reaction patterns to the Bgt isolate B15 between DGM and FZ30, we speculate that DGM may have two tightly linked genes that could not be separated in the current mapping population, one is PmDGM and the other is Pm5e. Hence, this study provides a valuable resistance resource for improvement of powdery mildew resistance.

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