title: [Application of Next Generation Sequencing to Screen the Neonatal Thalassemia Genes].
abstract: OBJECTIVE
  To explore the feasibility of using next-generation sequencing technology (NGS) to screen the neonatal thalassemia genes.
  
  
  METHODS
  Plantar blood of 206 cases of neonatal born in our hospital were randomly collected to be made into dried blood, which can be screened for thalassemia genes by next-generation sequencing, and then a further analysis would be performed on the basis on the detection results.
  
  
  RESULTS
  In 206 cases of neonates tested, the thalassemia gene mutations in 22 cases were screened, including 11 cases of alpha-thalassemia, 11 cases of beta-thalassemia, 5 cases of new mutations. Out of 11 cases of alpha-thalassemia 7 cases were proved to be the gene deletion, accounting for 64% (7/11), and the specific genotype distribution was as follows: 4 cases of αα/-α(3.7), 2 cases of αα/-SEA, 1 case of αα/-α(4.2), the remaining 4 cases with point mutations (4/11, 36%): Hb Part-Dieu hybrid, Hb Quong Sze hybrid, Hb Westmead hybrid, HBA1: c. 95 + 9 c > T (rewly discovered gene mutation). The whole 11 cases of β-thalassemia are proved to be with beta chain point mutations, 7 kinds of mutation genotype were detected , CD17 (A->T) is the most common point locus mutation, accounted for 27% (3/11), and 50 G>A hybrid in 2 cases, 1 cases of Hb Hamilton hybrid, IVS-II-654 (C->T) in 1 case. The remaining 4 cases are of the new gene point mutation, they are as follows respectively: HBB: c. 316-116 c>A, HBB: c.316-248G>T, HBB: c.315 + 63 T>c, HBB: c. -23 A>G.
  
  
  CONCLUSIONS
  The next-generation sequencing technology can be used to screen neonatal plantar dried blood for the thalassemia genetic mutation, which not only can effectively detect thalassemia gene types, but also can look for new gene mutations. The advantages of this method include easy collecting samples, precise result and wide use for clinical diagnosis, thus possibly give an early diagnosis for thalassemia.
authors.affiliation: The Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi 563000, Guizhou Province, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Tan
authors.affiliation: BGI-Shenzhen, Shenzhen 518000, Guangdong Province, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Lu
authors.affiliation: The Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi 563000, Guizhou Province, China.
authors.forename: Liu-Song
authors.initials: LS
authors.lastname: Wu
authors.affiliation: BGI-Shenzhen, Shenzhen 518000, Guangdong Province, China.
authors.forename: Da-Wei
authors.initials: DW
authors.lastname: Jin
authors.affiliation: BGI-Shenzhen, Shenzhen 518000, Guangdong Province, China.
authors.forename: Zhi-Yu
authors.initials: ZY
authors.lastname: Peng
authors.affiliation: The Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi 563000, Guizhou Province, China. E-mail: cyz600@163.com.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
mesh_terms: D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D017354:Point Mutation; D017085:alpha-Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C491844:hemoglobin Part-Dieu; C045396:hemoglobin Quong Sze; C056329:Hemoglobin Westmead; C040089:hemoglobin Hamilton