Tế bào gốc trung mô của răng và tiềm năng tái tạo mô

TAP CHl NGHliN CO'U Y HQC

8. S. Kleinle, R. Lang, S. M. hydroxylase deficiency. Endoer Review, 21:

Baumgartner-Parzer et al (2009). Duplica- 245-291.

10. Y.W.A. Jeske, I.N. McGown, A.M. tions of the Functional CYP21A2 Gene Are

Primarily Restricted to 0318X Alleles: Evi￾dence for a Founder Effect., J Clin Endocrinol C°"^" " ®* «' <2009). 21-Hydroxylase Geno￾Metab 94(10): 3954-3958 W^^Q in Australasian Patients with Congenital

9. White PC, Speiser PW (2000). Adrenal Hyperplasia. Joumal of Pediatric

Congenital adrenal hyperplasia due to 21 Endocrinology & Metabolism, 22: 127-141.

Summary

CYP21A2 GENE MUTATION ANALYSIS IN PATIENT WITH

21-HYDROXYLASE DEFICIENCY

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most

common autosomal recessive disorders. The disease causes due to CYP21A2 mutations.

Mutation analysis of CYP21A2 gene plays an important role In diagnosing of CAH disease, carrier

detection, prenatal diagnosis and treatment. The study was to detect the mutation in CYP21A2

gene. The results indicated that all patients were detected to have mutation in CYP21A2 gene

Including: 1/5 patient had large deletion, 2/5 patients had In2 A/C-^G mutation, 1/5 patient had

I172N mutation and 1/5 patient had R356V/ mutation. In conclusion, successfully identify the

mutation in CY21A2 gene using sequencing and MLPA techniques.

Keywords: congenital adrenal hyperplasia; CYP21A2 mutation

T^ BAO G6 C TRUNG MO CUA RANG

VA TJ^M NANG TAI TAG MO

Hodng Dao Bao Tram^ Tg Thanh Van^

^Dpi hpc Y Dwgc thanh phd Ho Chi Minh, 'Tnrdng Dpi hpc Y Ha Ndi

Te bao gdc tmng md (Mesenchymal Stem Cells MSC) dwgc phdn Ipp tw nhiiu nguon khde nhau va

dugc md ta diu tidn d tuy xwang. MSC duge ddc trung bdi cae marker in vitro nhw STRO-1, CD146 hope

CD44 [14]. STRO-1 Id mdt pmtein mdng dung di xdc dnh cdc ti bdo gdc tiin than a tuy xwang, CD146,

CD44 diu Id glycopmtein mdng ed vai trd tham gia lien kit ti bdo-ti bdo Id nhwng marker dpc tmng eho

MSC. MSC ed khd nang tw phdn chia vd bidt hda thdnh nhiiu ddng.ti bdo, tao spn, xwang, md, co va md

lien kit dpm, cd nhiiu triin vpng id ngudn ti bdo gdc eho phwang phap diu trj bang ti bdo.

CAC LOAI r e BAO G6 C TRUNG MO '*' " ° "^^ ="^ '^'. '^ f ° " f ^."'^' """^

nhu-ng ITnh vyc ngay cdng thu hut dupe sy

CUA RANG q^g^ t^rn ngdy ciia cde nha khoa hpc d nhieu

Trong nhQ'ng ndm gin ddy. te bdo gdc cd nu'dc trOn the gidi. Cae te bdo gdc da dupe

ngudn gdc tip rang va mim rang va tiem ndng phdn ldp tip rang ngudi bao gdm te bdo gdc

TCNCYH 78 (1) - 2012 ^^^