[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type â…¡].

[oculocutaneous albinism]

To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA ).Direct sequencing of TYR and P genes was performed in two albino probands . Family members were screened for corresponding mutant alleles . Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS ) at mid-pregnancy through amniocentesis .No mutations were detected in the TYR gene in either probands , whereas 4 heterozygous mutations of the P gene were found , namely c .406 C >T , c .535 A >G , c .808 -2 A >G and c .2180 T >C , among which c .535 A >G and c .808 -2 A >G were novel . In the first round prenatal genetic testing , both fetuses were found to have the same genotypes as the probands . Both families had decided to terminate the pregnancy after genetic counseling . In the second round testing , neither of the fetuses was found to be affected by genotyping . The pregnancies continued and two healthy fetuses were born .OCA can be classified by genotyping , with which reliable prenatal diagnosis and feasible genetic counseling may be provided .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

You can validate or delete this automatically detected symptom