Genotype analysis and telomere length measure in patients with dyskeratosis congenita.

Jia-yuan Zhang; Wen-bin AN; Li Zhang; Li-xian Chang; Ben-quan QI; Tian-feng Liu; Fang Liu; Wen-yu Yang; Ye Guo; Xiao-fan Zhu

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Genotype analysis and telomere length measure in patients with dyskeratosis congenita.

Author: Jia-Yuan ZHANG ¹ ; Wen-Bin AN ² ; Li ZHANG ³ ; Li-Xian CHANG ² ; Ben-Quan QI ¹ ; Tian-Feng LIU ² ; Fang LIU ¹ ; Wen-Yu YANG ² ; Ye GUO ² ; Xiao-Fan ZHU ⁴
Author Information

1. Diagnostic and Therapeutic Center of Pediatric Hematologic Diseases, Institute of Hematology and Blood Diseases Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
2. Diagnostic and Therapeutic Center of Pediatric Hematologic Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
3. Diagnostic and Therapeutic Center of Pediatric Hematologic Diseases,Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
4. Diagnostic and Therapeutic Center of Pediatric Hematologic Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China. E-mail: xfzhu1981@126.com.
Publication Type:Case Reports
MeSH: Base Sequence; Bone Marrow; China; Dyskeratosis Congenita; Exons; Genotype; Humans; In Situ Hybridization, Fluorescence; Polymerase Chain Reaction; Sequence Analysis, DNA; Telomere; Telomere-Binding Proteins
From: Journal of Experimental Hematology 2015;23(1):212-216
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo analysze genotype and measure telomere length in two Chinese patients with dyskeratosis congenita(DC).
METHODSThe peripleral blood DNA was extracted in two patients characterized by mucocutaneous abnormalities (abnormal nails, lacy reticulated skin pigmentation, and oral leukoplakia), bone marrow failure, DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons. Lymphocyte telomere length was measured by flow cytometry-fluorescence in situ hybridization(Flow-FISH).
RESULTSAbnormal peaks were found in exon 6 of TINF2 gene of the two patients and a 811C→T transition in TINF2 gene in one patient. DNA sequencing showed a 848C→A transition in TINF2 gene in another patient. Relative telomere length was remarkable less than that of normal children with same age.
CONCLUSIONSPhysician should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. Early detection of related genes and measurernant of tolomere length may contribute to avoid misdiagnosis. TINF2 c.811C→T (Q271X) and TINF2 c.848C→A (P283H) exist in the two patients, it is reported in China for the first time.