A Study On The Relationship Between Genetic Polymorphisms Of CRISPLD2/rs2934468 And Nonsyndromic Cleft Lip With Or Without Cleft Palate And A Clinical Research Of Related Factors On Cleft Palate Repair In Gansu Province

Objective:To study the association between the rs2934468 polymorphisms in CRISPLD2 (cysteine-rich secretory protein LCCL domain containing 2) and nonsyndromic cleft lip with or without cleft palate(NSCL/P), then discuss the application of repair for cleft palate on 117 patients in Gansu province, control of complications, prognosis and the effect of primary speech training.Methods:1. Genotyping of rs2934468 was conducted by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOFMS) in both 205 patients and 197 controls. Theχ2 test was performed to investigate the association between SNP and NSCL/P.2.117 patients with cleft palate were included in the study. On the basis of two-flap palatoplasty, different methods for palatoplasty were applied according to the patient's classification of cleft palate, then followed up regularly and evaluated their speech intelligibility after 2 years.Results:1. The genotype and allele frequencies of rs2934468 in CRISPLD2 were significantly different between NSCL/P group and healthy group (χ2=12.883,df=2,P<0.05) and between CL/P group and healthy group (χ2=32.585, df=2, P<0.05), the frequency of AA genotype of rs2934468 showed stronger association in male patients.2. Without postoperative active bleeding,airway obstruction and wound infection,115 cases had been repaired successfully and showed normal contour of uvula and good velar movement, but 2 were suffered with palatal fistula. The average speech intelligibility of 69 tested patients was 61.7%. The older age group(8-38 years) showed highly significant difference compared with the younger age group(4-8 years) (P<0.05).Conclusion:1. The polymorphism of rs2934468 in CRISPLD2 is associated with NSCL/P in Gansu province.2. It is better for velopharyngeal closure on the basis of safety first and the levator veli palatini retropositioning. Cleft palate repair with musculus levator veli palatini retropositioning carries a acceptal risk of fistula formation.The younger age group had better speech intelligibility than the older group, but the improvement of speech intelligibility exercised by themselves was not satisfied.